Vous êtes sur la page 1sur 51

Table of Contents

Human body .................................................................................................................................................. 2


Human Body Compositions....................................................................................................................... 2
Cells ....................................................................................................................................................... 3
Tissues ................................................................................................................................................... 3
Organs ................................................................................................................................................... 4
Musculoskeletal system ................................................................................................................................ 4
Digestive system ........................................................................................................................................... 5
Respiratory System ....................................................................................................................................... 6
Urinary System .............................................................................................................................................. 7
Reproductive Organs ................................................................................................................................ 7
MALE REPRODUCTIVE ........................................................................................................................... 8
FEMALE REPRODUCTIVE ....................................................................................................................... 8
Endocrine Glands .......................................................................................................................................... 9
Circulatory System ...................................................................................................................................... 10
Cardiovascular system ............................................................................................................................ 11
Lymphatic system ................................................................................................................................... 11
Nervous System .......................................................................................................................................... 13
Central Nervous System .......................................................................................................................... 14
Peripheral Nervous System ..................................................................................................................... 15
Sensory Organs ....................................................................................................................................... 16
Neuron ........................................................................................................................................................ 18
THREE TYPES OF NEURON................................................................................................................... 19
 Sensory Neurons ............................................................................................................................. 19
 Motor Neurons ............................................................................................................................... 20
 Interneurons ................................................................................................................................... 21
Transmission of Nerve Impulses ................................................................................................................. 21
Nerve ........................................................................................................................................................... 23
Sympathetic and Parasympathetic ............................................................................................................ 25
The sympathetic nervous system ........................................................................................................... 25
The parasympathetic nervous system .................................................................................................... 26
Disorders of the Nervous System ............................................................................................................... 28
Endocrine Disorders .................................................................................................................................... 32
Types of Endocrine Disorders: ................................................................................................................ 33
Brain Structures and their Functions .......................................................................................................... 34
DNA ............................................................................................................................................................. 37
Supercoiling............................................................................................................................................. 38
Chromosomes ............................................................................................................................................. 39
Gene ............................................................................................................................................................ 40
DNA Transcription, Replication, Translation ............................................................................................... 41
Transcription ............................................................................................................................................... 41
Karyotype .................................................................................................................................................... 46
Gel electrophoresis ..................................................................................................................................... 47

1|Page
UNIT I: BODY REGULATIONS

Human body
The human body is the entire structure of a human being. It is composed of many different types of cells
that together create tissues and subsequently organ systems. They ensure homeostasis and viability of
human body.
It comprises a head, neck, trunk (which includes the thorax and abdomen), arms and hands, legs and
feet.

The study of the human body involves anatomy, physiology, histology and embryology. The body varies
anatomically in known ways. Physiology focuses on the systems and organs of the human body and their
functions. Many systems and mechanisms interact in order to maintain homeostasis, with safe levels of
substances such as sugar and oxygen in the blood.

The body is studied by health professionals, physiologists, anatomists, and by artists to assist them in
their work.

(Fig. Human Body)

Human Body Compositions

The human body is composed of elements including hydrogen, oxygen, carbon, calcium and phosphorus.
These elements reside in trillions of cells and non-cellular components of the body.

The adult male body is about 60% water for a total water content of some 42 litres.
This is made up of about 19 litres of extracellular fluid including about 3.2 litres of blood plasma and
about 8.4 litres of interstitial fluid, and about 23 litres of fluid inside cells.

2|Page
The content, acidity and
composition of the water inside
and outside of cells are carefully
maintained. The main
electrolytes in body water
outside of cells are sodium and
chloride, whereas within cells it
is potassium and other
phosphates.

(Fig. Elements of the human


Body)

Cells

The body contains trillions of cells, the fundamental unit of life. At maturity, there are roughly 37.2
trillion cells in the body; an estimate arrived at by totaling the cell numbers of all the organs of the body
and cell types. The body also plays the role of host to trillions of cells which reside in the gastrointestinal
tract and on the skin.[citation needed] Not all parts of the body are made from cells. Cells sit in an
extracellular matrix that consists of proteins such as collagen, surrounded by extracellular fluids.

Cells in the body function because of DNA. DNA sits within the nucleus of a cell. Here, parts of DNA are
copied and sent to the body of the cell via RNA. The RNA is then used to create proteins which form the
basis for cells, their activity, and their products. Not all cells have DNA - some cells such as mature red
blood cells lose their nucleus as they mature.

Tissues

The body consists of many different types of tissue, defined as cells that act with a specialized function.
The study of tissues is called histology and often occurs with a microscope. The body consists of four
main types of tissues - lining cells (epithelia), connective tissue, nervous tissue, and muscle tissue.

Cells that lie on surfaces exposed to the outside world or gastrointestinal tract (epithelia) or internal
cavities (endothelium) come in numerous shapes and forms - from single layers of flat cells, to cells with
small beating hair-like cilia in the lungs, to column-like cells that line the stomach. Endothelial cells are
cells that line internal cavities including blood vessels and glands. Lining cells regulate what can and
can't pass through them, protect internal structures, and function as sensory surfaces.

3|Page
Organs

This article contains a list of organs of the human body. There are approximately 79 organs, though
there is no standard definition of what constitutes an organ and some tissue groups' status as one is
debated.

Musculoskeletal system

(Also known as the locomotors system, and previously the activity system) is an organ system
that gives humans the ability to move using their muscular and skeletal systems. The
musculoskeletal system provides form, support, stability,
and movement to the body.

It is made up of the bones of the skeleton, muscles,


cartilage, tendons, ligaments, joints, and other
connective tissue that supports and binds tissues and
organs together. The musculoskeletal system's primary
functions include supporting the body, allowing motion,
and protecting vital organs. The skeletal portion of the
system serves as the main storage system for calcium
and phosphorus and contains critical components of the
hematopoietic system.

This system describes how bones are connected to other bones and muscle fibers via
connective tissue such as tendons and ligaments. The bones provide stability to the body.
Muscles keep bones in place and also play a role in the movement of bones. To allow motion,
different bones are connected by joints. Cartilage prevents the bone ends from rubbing directly
onto each other. Muscles contract to move the bone attached at the joint.

There are, however, diseases and disorders that may adversely affect the function and overall
effectiveness of the system. These diseases can be difficult to diagnose due to the close relation
of the musculoskeletal system to other internal systems. The musculoskeletal system refers to
the system having its muscles attached to an internal skeletal system and is necessary for
humans to move to a more favorable position. Complex issues and injuries involving the
musculoskeletal system are usually handled by a physiatrist (specialist in physical medicine and
rehabilitation) or an orthopedic surgeon.

4|Page
Digestive system

The human digestive system consists of the gastrointestinal tract plus the accessory organs of
digestion (the tongue, salivary glands, pancreas, liver, and gallbladder). In this system, the
process of digestion has many stages, the first of which starts in the mouth. Digestion involves
the breakdown of food into smaller and smaller components, until they can be absorbed and
assimilated into the body.
Chewing, in which food is
mixed with saliva begins the
process of digestion. This
produces a bolus which can
be swallowed down the
esophagus and into the
stomach. Here it is mixed
with gastric juice until it
passes into the duodenum,
where it is mixed with a
number of enzymes produced
by the pancreas. Saliva also
contains a catalytic enzyme
called amylase which starts to
act on food in the mouth.
Another digestive enzyme
called lingual lipase is
secreted by some of the
lingual papillae on the tongue
and also from serous glands
in the main salivary glands.
Digestion is helped by the mastication of food by the teeth and also by the muscular actions of
peristalsis and segmentation contractions. Gastric juice in the stomach is essential for the
continuation of digestion as is the production of mucus in the stomach.

Peristalsis is the rhythmic contraction of muscles that begins in the esophagus and continues
along the wall of the stomach and the rest of the gastrointestinal tract. This initially results in
the production of chyme which when fully broken down in the small intestine is absorbed as
chyle into the lymphatic system. Most of the digestion of food takes place in the small intestine.
Water and some minerals are reabsorbed back into the blood in the colon of the large intestine.
The waste products of digestion (feces) are defecated from the anus via the rectum.

5|Page
Respiratory System

The respiratory system (called also respiratory apparatus, ventilatory system) is a biological
system consisting of specific organs and structures used for the process of respiration in an
organism. The respiratory system is involved in the intake and exchange of oxygen and carbon
dioxide between an organism and the environment.

In air-breathing vertebrates like human beings, respiration takes place in the respiratory organs
called lungs. The passage of air into the lungs to supply the body with oxygen is known as
inhalation, and the passage of air out of the lungs to expel carbon dioxide is known as
exhalation; this process is collectively called breathing or ventilation. In humans and other
mammals, the anatomical features of the respiratory system include trachea, bronchi,
bronchioles, lungs, and diaphragm. Molecules of oxygen and carbon dioxide are passively
exchanged, by diffusion, between the gaseous external environment and the blood. This
exchange process occurs in the alveoli (air sacs) in the lungs.

In fish and many invertebrates,


respiration takes place through
the gills. Other animals, such as
insects, have respiratory
systems with very simple
anatomical features, and in
amphibians even the skin plays
a vital role in gas exchange.
Plants also have respiratory
systems but the directionality of
gas exchange can be opposite to
that in animals. The respiratory
system in plants also includes
anatomical features such as
holes on the undersides of
leaves known as stomata.

6|Page
Urinary System

The urinary system, also known as the renal system, consists of the kidneys, ureters, bladder,
and the urethra. Each kidney consists of millions of functional units called nephrons. The
purpose of the renal system is to eliminate wastes from the body, regulate blood volume and
blood pressure, control levels of
electrolytes and metabolites, and
regulate blood pH. The kidneys
have an extensive blood supply via
the renal arteries which leave the
kidneys via the renal vein.
Following filtration of blood and
further processing, wastes (in the
form of urine) exit the kidney via
the ureters, tubes made of smooth
muscle fibers that propel urine
towards the urinary bladder,
where it is stored and
subsequently expelled from the body by urination (voiding). The female and male urinary
system is very similar, differing only in the length of the urethra.

Urine is formed in the kidneys through a filtration of blood. The urine is then passed through
the ureters to the bladder, where it is stored. During urination, the urine is passed from the
bladder through the urethra to the outside of the body.
800–2,000 milliliters (mL) of urine are normally produced every day in a healthy human. This
amount varies according to fluid intake and kidney function.

Reproductive Organs

A sex organ or reproductive organ, primary sex organ, or primary sexual characteristic, is any
anatomical part of the body in a complex organism that is involved in sexual reproduction and
together constitute the reproductive system. The external and visible organs, in males and
females, are the primary sex organs known as the genitals or genitalia. The internal organs are
known as the secondary sex organ and are sometimes referred to as the internal genitalia. The
characteristics that begin to appear during puberty, such as, in humans, pubic hair on both
sexes and facial hair on the male, are known as secondary sex characteristics.

7|Page
Mosses, ferns, and some similar plants have gametangia for reproductive organs, which are
part of the gametophyte. The flowers of flowering plants produce pollen and egg cells, but the
sex organs themselves are inside the gametophytes within the pollen and the ovule. Coniferous
plants likewise produce their sexually reproductive structures within the gametophytes
contained within the cones and pollen. The cones and pollen are not themselves sexual organs.

MALE REPRODUCTIVE

The male reproductive system consists of a number of sex organs that play a role in the process
of human reproduction. These
organs are located on the
outside of the body and within
the pelvis.

The main male sex organs are


the penis and the testicles which
produce semen and sperm,
which, as part of sexual
intercourse, fertilize an ovum in
the female's body; the fertilized
ovum (zygote) develops into a
fetus, which is later born as an
infant.

FEMALE REPRODUCTIVE

The female reproductive system (or female genital system) is made up of the internal and
external sex organs that function in human reproduction. The female reproductive system is
immature at birth and develops to maturity at puberty to be able to produce gametes, and to
carry a fetus to full term. The internal sex organs are the uterus and Fallopian tubes, and the
ovaries. The uterus or womb accommodates the embryo which develops into the fetus. The
uterus also produces vaginal and uterine secretions which help the transit of sperm to the
Fallopian tubes. The ovaries produce the ova (egg cells). The external sex organs are also known
as the genitals and these are the organs of the vulva including the labia, clitoris and vaginal
opening. The vagina is connected to the uterus at the cervix.

8|Page
At certain intervals,
the ovaries release
an ovum, which
passes through the
Fallopian tube into
the uterus. If, in
this transit, it
meets with sperm,
a single sperm can
enter and merge
with the egg,
fertilizing it.

The corresponding
equivalent among males is the male reproductive system.
Fertilization usually occurs in the Fallopian tubes and marks the beginning of
embryogenesis. The zygote will then divide over enough generations of cells to
form a blastocyst, which implants itself in the wall of the uterus. This begins the
period of gestation and the embryo will continue to develop until full-term. When
the fetus has developed enough to survive outside the uterus, the cervix dilates and contractions
of the uterus propel the newborn through the birth canal (the vagina).

Endocrine Glands

Endocrine glands are glands of the endocrine system that secrete their products, hormones, directly into
the blood rather than through a duct. The major glands of the endocrine system include the pineal
gland, pituitary gland, pancreas, ovaries,
testes, thyroid gland, parathyroid gland,
hypothalamus and adrenal glands. The
hypothalamus and pituitary gland are
neuroendocrine organs. Local chemical
messengers, not generally considered
part of the endocrine system, include
autocrines, which act on the cells that
secrete them, and paracrines, which act
on a different cell type nearby.

The ability of a target cell to respond to


a hormone depends on the presence of

9|Page
receptors, within the cell or on its plasma membrane, to which the hormone can bind.
Hormone receptors are dynamic structures. Changes in number and sensitivity of hormone receptors
may occur in response to high or low levels of stimulating hormones.
Blood levels of hormones reflect a balance between secretion and degradation/excretion. The liver and
kidneys are the major organs that degrade hormones; breakdown products are excreted in urine and
feces.
Hormone half-life and duration of activity are limited and vary from hormone to hormone.

Circulatory System

The circulatory system, also called the cardiovascular system or the vascular system, is an organ system
that permits blood to circulate and transport nutrients (such as amino acids and electrolytes), oxygen,
carbon dioxide, hormones, and blood cells to and from the cells in the body to provide nourishment and
help in fighting diseases, stabilize temperature and pH, and maintain homeostasis. The study of the
blood flow is called hemodynamics. The study of the properties of the blood flow is called
hemorheology.

The circulatory system is often seen


to comprise two separate systems:
the cardiovascular system, which
distributes blood, and the lymphatic
system, which circulates lymph. The
passage of lymph for example takes
much longer than that of blood.
Blood is a fluid consisting of plasma,
red blood cells, white blood cells, and
platelets that is circulated by the
heart through the vertebrate vascular
system, carrying oxygen and
nutrients to and waste materials
away from all body tissues. Lymph is
essentially recycled excess blood
plasma after it has been filtered from
the interstitial fluid (between cells)
and returned to the lymphatic
system. The cardiovascular (from
Latin words meaning "heart" and
"vessel") system comprises the blood,
heart, and blood vessels. The lymph,
lymph nodes, and lymph vessels form the lymphatic system, which returns filtered blood plasma from
the interstitial fluid (between cells) as lymph.

While humans, as well as other vertebrates, have a closed cardiovascular system (meaning that the
blood never leaves the network of arteries, veins and capillaries), some invertebrate groups have an
open cardiovascular system. The lymphatic system, on the other hand, is an open system providing an
accessory route for excess interstitial fluid to be returned to the blood. The more primitive, diploblastic
animal phyla lack circulatory systems.

10 | P a g e
Cardiovascular system

The essential components of the human cardiovascular system are the heart, blood and blood
vessels. It includes the pulmonary circulation, a "loop" through the lungs where blood is
oxygenated; and the systemic circulation, a "loop" through the rest of the body to provide
oxygenated blood. The systemic circulation can also be seen to function in two parts–a
macrocirculation and a
microcirculation. An average
adult contains five to six
quarts (roughly 4.7 to 5.7
liters) of blood, accounting for
approximately 7% of their
total body weight. Blood
consists of plasma, red blood
cells, white blood cells, and
platelets. Also, the digestive
system works with the
circulatory system to provide
the nutrients the system
needs to keep the heart
pumping.

The cardiovascular systems of humans are closed, meaning that the blood never leaves the
network of blood vessels. In contrast, oxygen and nutrients diffuse across the blood vessel
layers and enter interstitial fluid, which carries oxygen and nutrients to the target cells, and
carbon dioxide and wastes in the opposite direction. The other component of the circulatory
system, the lymphatic system, is open.

Lymphatic system

The lymphatic system is part of the circulatory system and a vital part of the immune system, comprising
a network of lymphatic vessels that carry a clear fluid called lymph (from Latin, lympha meaning "water"
directionally towards the heart. The lymphatic system was first described

In the seventeenth century independently by Olaus Rudbeck and Thomas Bartholin. Unlike the
cardiovascular system, the lymphatic system is not a closed system. The human circulatory system
processes an average of 20 liters of blood per day through capillary filtration, which removes plasma
while leaving the blood cells. Roughly 17 litres of the filtered plasma are reabsorbed directly into the
blood vessels, while the remaining three litres remain in the interstitial fluid. One of the main functions
of the lymph system is to provide an accessory return route to the blood for the surplus three litres.
The other main function is that of defense in the immune system. Lymph is very similar to blood plasma:
it contains lymphocytes and other white blood cells. It also contains waste products and cellular debris
together with bacteria and proteins. Associated organs composed of lymphoid tissue are the sites of

11 | P a g e
lymphocyte production. Lymphocytes are concentrated in the lymph nodes. The spleen and the thymus
are also lymphoid organs of the immune system.
The tonsils are lymphoid organs that are also associated with the digestive system. Lymphoid tissues
contain lymphocytes, and also contain other types of cells for support. The system also includes all the
structures dedicated to the circulation and production of lymphocytes (the primary cellular component
of lymph), which also includes the bone marrow, and the lymphoid tissue associated with the digestive
system.

The blood does not come into direct contact with the parenchymal cells and tissues in the body (except
in case of an injury causing rupture of one or more blood vessels), but constituents of the blood first exit
the microvascular
exchange blood vessels to
become interstitial fluid,
which comes into contact
with the parenchymal cells
of the body. Lymph is the
fluid that is formed when
interstitial fluid enters the
initial lymphatic vessels of
the lymphatic system. The
lymph is then moved along
the lymphatic vessel
network by either intrinsic
contractions of the
lymphatic passages or by
extrinsic compression of
the lymphatic vessels via
external tissue forces (e.g.,
the contractions of skeletal muscles), or by lymph hearts in some animals. The organization of lymph
nodes and drainage follows the organization of the body into external and internal regions; therefore,
the lymphatic drainage of the head, limbs, and body cavity walls follows an external route, and the
lymphatic drainage of the thorax, abdomen, and pelvic cavities follows an internal route. Eventually, the
lymph vessels empty into the lymphatic ducts, which drain into one of the two subclavian veins, near
their junction with the internal jugular veins.

12 | P a g e
Nervous System
The nervous system is the part of an animal's body that coordinates its actions and transmits signals to
and from different parts of its body. Nervous tissue first arose in wormlike organisms about 550 to 600
million years ago. In vertebrate species it consists of two main parts, the central nervous system (CNS)
and the peripheral nervous system (PNS). The CNS contains the brain and spinal cord. The PNS consists
mainly of nerves, which are enclosed bundles of the long fibers or axons that connect the CNS to every
other part of the body. Nerves that transmit signals from the brain are called motor or efferent nerves,
while those nerves that transmit information from the body to the CNS are called sensory or afferent.
Most nerves serve both functions and are called mixed nerves. The PNS is divided into a) somatic and
b) Autonomic nervous system, and
c) the enteric nervous system.
Somatic nerves mediate voluntary
movement. The autonomic nervous
system is further subdivided into the
sympathetic and the
parasympathetic nervous systems.
The sympathetic nervous system is
activated in cases of emergencies to
mobilize energy, while the
parasympathetic nervous system is
activated when organisms are in a
relaxed state. The enteric nervous
system functions to control the
gastrointestinal system. Both
autonomic and enteric nervous
systems function involuntarily.
Nerves that exit from the cranium
are called cranial nerves while those
exiting from the spinal cord are
called spinal nerves.

At the cellular level, the nervous


system is defined by the presence of
a special type of cell, called the
neuron, also known as a "nerve cell". Neurons have special structures that allow them to send signals
rapidly and precisely to other cells. They send these signals in the form of electrochemical waves
traveling along thin fibers called axons, which cause chemicals called neurotransmitters to be released
at junctions called synapses. A cell that receives a synaptic signal from a neuron may be excited,
inhibited, or otherwise modulated. The connections between neurons can form neural circuits and also
neural networks that generate an organism's perception of the world and determine its behavior. Along
with neurons, the nervous system contains other specialized cells called glial cells (or simply glia), which
provide structural and metabolic support.

Nervous systems are found in most multicellular animals, but vary greatly in complexity. The only
multicellular animals that have no nervous system at all are sponges, placozoans, and mesozoans, which
have very simple body plans. The nervous systems of the radially symmetric organisms ctenophores

13 | P a g e
(comb jellies) and cnidarians (which include anemones, hydras, corals and jellyfish) consist of a diffuse
nerve net. All other animal species, with the exception of a few types of worm, have a nervous system
containing a brain, a central cord (or two cords running in parallel), and nerves radiating from the brain
and central cord. The size of the nervous system ranges from a few hundred cells in the simplest worms,
to around 300 billion cells in African elephants.

The central nervous system functions to send signals from one cell to others or from one part of the
body to others and to receive feedback. Malfunction of the nervous system can occur as a result of
genetic defects, physical damage due to trauma or toxicity, infection or simply of ageing. The medical
specialty of neurology studies disorders of the nervous system and looks for interventions that can
prevent or treat them. In the peripheral nervous system, the most common problem is the failure of
nerve conduction, which can be due to different causes including diabetic neuropathy and
demyelinating disorders such as multiple sclerosis and amyotrophic lateral sclerosis.

Central Nervous System

The central nervous system (CNS) is the part of the nervous system consisting of the brain and spinal
cord. The central nervous system is so named because it integrates
information it receives from, and coordinates and influences the
activity of all parts of the bodies of bilaterally symmetric animals—
that is, all multicellular animals except sponges and radially
symmetric animals such as jellyfish—and it contains the majority of
the nervous system.

Many consider the retina and the optic nerve (2nd cranial nerve), as
well as the olfactory nerves (1st) and olfactory epithelium as parts
of the CNS, synapsing directly on brain tissue without intermediate
ganglia. Following this classification [which?] the olfactory
epithelium is the only central nervous tissue in direct contact with
the environment, which opens up for therapeutic treatments. The
CNS is contained within the dorsal body cavity, with the brain
housed in the cranial cavity and the spinal cord in the spinal canal.
In vertebrates, the brain is protected by the skull, while the spinal
cord is protected by the vertebrae, both enclosed in the meninges.

14 | P a g e
Peripheral Nervous System

The peripheral nervous system (PNS) is the part of the nervous system that consists of the nerves and
ganglia outside of the brain and spinal cord. The main function of the PNS is to connect the central
nervous system (CNS) to the limbs and organs, essentially serving as a communication relay going back
and forth between the brain
and spinal cord with the rest
of the body. Unlike the CNS,
the PNS is not protected by
the bone of spine and skull,
or by the blood–brain
barrier, which leaves it
exposed to toxins and
mechanical injuries. The
peripheral nervous system is
mainly divided into the
somatic nervous system and
the autonomic nervous
system. In the somatic
nervous system, the cranial
nerves are part of the PNS
with the exception of cranial
nerve II, the optic nerve,
along with the retina. The
second cranial nerve is not a
true peripheral nerve but a
tract of the diencephalon.
Cranial nerve ganglia
originate in the CNS.
However, the remaining ten
cranial nerve axons extend
beyond the brain and are
therefore considered part of
the PNS. The Autonomic
nervous system is an involuntary control of smooth muscle. The connection between CNS and organs
allows the system to be in two different functional states: sympathetic and parasympathetic.

15 | P a g e
Sensory Organs

A sense is a physiological capacity of organisms that provides data for perception. The senses and their
operation, classification, and theory are overlapping topics studied by a variety of fields, most notably
neuroscience, cognitive psychology (or cognitive science), and philosophy of perception. The nervous
system has a specific sensory system or organ, dedicated to each sense.

Humans have a multitude of senses. Sight (vision), hearing (audition), taste (gustation), smell (olfaction),
and touch (somatosensation) are the five traditionally recognized senses. The ability to detect other
stimuli beyond those governed by these most broadly recognized senses also exists, and these sensory
modalities include temperature (thermoception), kinesthetic sense (proprioception), pain (nociception),
balance (equilibrioception), vibration (mechanoreception), and various internal stimuli (e.g. the different
chemoreceptors for detecting salt and carbon dioxide concentrations in the blood). However, what
constitutes a sense is a matter of some debate, leading to difficulties in defining what exactly a distinct
sense is, and where the borders between responses to related stimuli lay.

Other animals also have receptors to sense the world around them, with degrees of capability varying
greatly between species. Humans have a comparatively weak sense of smell and a stronger sense of
sight relative to many other mammals while some animals may lack one or more of the traditional five
senses. Some animals may also intake and interpret sensory stimuli in very different ways. Some species
of animals are able to sense the world in a way that humans cannot, with some species able to sense
electrical and magnetic fields, and detect water pressure and currents.

16 | P a g e
Integumentary System

The integumentary system is the organ system that protects the body from various kinds of damage,
such as loss of water or abrasion from outside. The system comprises the skin and its appendages
(including hair, scales, feathers, hooves, and nails). The integumentary system has a variety of functions;
it may serve to waterproof, cushion, and protect the deeper tissues, excrete wastes, and regulate
temperature, and is the attachment site for sensory receptors to detect pain, sensation, pressure, and
temperature. In most terrestrial vertebrates with significant exposure to sunlight, the integumentary
system also provides for vitamin D synthesis.

17 | P a g e
UNIT II : NEURONS

Neuron
A neuron (also known as a neurone or nerve cell) is an electrically excitable cell that processes
and transmits information through electrical and chemical signals. These signals between
neurons occur via synapses, specialized connections with other cells. Neurons can connect to
each other to form neural networks. Neurons are the core components of the brain and spinal
cord of the central nervous system (CNS), and of the ganglia of the peripheral nervous system
(PNS).

There are several types of specialized neurons. Sensory neurons respond to stimuli such as
touch, sound or light and all other stimuli affecting the cells of the sensory organs that then
send signals to the spinal cord and brain. Motor neurons receive signals from the brain and
spinal cord to cause muscle contractions and affect glandular outputs. Interneurons connect
neurons to other neurons within the same region of the brain, or spinal cord in neural
networks.

A typical neuron consists of a cell body (soma), dendrites, and an axon. The term neurite is used
to describe either a dendrite or an axon, particularly in its undifferentiated stage. Dendrites are
thin structures that arise from the cell body, often extending for hundreds of micrometres and
branching multiple times, giving rise to a complex "dendritic tree". An axon (also called a nerve
fiber when myelinated) is a special cellular extension (process) that arises from the cell body at
a site called the axon hillock and travels for a distance, as far as 1 meter in humans or even
more in other species. Nerve fibers are often bundled into fascicles, and in the peripheral
nervous system, bundles of fascicles make up nerves (like strands of wire make up cables). The
cell body of a neuron frequently gives rise to multiple dendrites, but never to more than one

18 | P a g e
axon, although the axon may branch hundreds of times before it terminates. At the majority of
synapses, signals are sent from the axon of one neuron to a dendrite of another. There are,
however, many exceptions to these rules: for example, neurons can lack dendrites, or have no
axon, and synapses can connect an axon to another axon or a dendrite to another dendrite.

All neurons are electrically excitable, maintaining voltage gradients across their membranes by
means of metabolically driven ion pumps, which combine with ion channels embedded in the
membrane to generate intracellular-versus-extracellular concentration differences of ions such
as sodium, potassium, chloride, and calcium. Changes in the cross-membrane voltage can alter
the function of voltage-dependent ion channels. If the voltage changes by a large enough
amount, an all-or-none electrochemical pulse called an action potential is generated, which
travels rapidly along the cell's axon, and activates synaptic connections with other cells when it
arrives.

In most cases, neurons are generated by special types of stem cells. Neurons in the adult brain
generally do not undergo cell division. Astrocytes are star-shaped glial cells that have also been
observed to turn into neurons by virtue of the stem cell characteristic pluripotency.
Neurogenesis largely ceases during adulthood in most areas of the brain.[citation needed]
However, there is strong evidence for generation of substantial numbers of new neurons in two
brain areas, the hippocampus and olfactory bulb.

THREE TYPES OF NEURON

 Sensory Neurons
 Motor Neurons
 Interneurons

 Sensory Neurons
Sensory neurons (also called sensory receptor cells) are neurons that convert a specific type of stimulus
into action potentials or graded potentials in the same cell or in an adjacent one. This process is called
transduction.

19 | P a g e
This sensory information travels along a sensory nerve to the brain or spinal cord. The stimulus can be
coming from outside of the body, for example light and sound, or from inside the body, for example
blood pressure or the sense of body position. Different types of sensory neurons respond to different
kinds of stimuli.

 Motor Neurons

A motor neuron (or motoneuron) is a nerve cell (neuron) whose cell body is located in the spinal cord
and whose fiber (axon) projects outside the spinal cord to directly or indirectly control effector organs,
mainly muscles and glands. Motor neurons' axons are efferent nerve fibers that carry signals from the
spinal cord to the effectors to produce effects. Types of motor neurons are alpha motor neurons, beta
motor neurons, and gamma motor neurons.

There are upper motor


neurons and lower
motor neurons, with
the cell type described
above being a lower
motor neuron. Upper
motor neurons are
cortico-spinal
interneurons that arise
from the motor cortex
and descend to the
spinal cord where they
activate the lower
motor neurons
through synapses. The
term 'motor neuron' is
usually restricted to
the efferent neurons that actually innervate muscles (the lower motor neurons).

A single motor neuron may innervate many muscle fibres and a muscle fibre can undergo many action
potentials in the time taken for a single muscle twitch. As a result, if an action potential arrives before a
twitch has completed, the twitches can superimpose on one another, either through summation or a
tetanic contraction. In summation, the muscle is stimulated repetitively such that additional action
potentials coming from the somatic nervous system arrive before the end of the twitch. The twitches
thus superimpose on one another, leading to a force greater than that of a single twitch. A tetanic
contraction is caused by constant, very high frequency stimulation - the action potentials come at such a
rapid rate that individual twitches are indistinguishable, and tension rises smoothly eventually reaching
a plateau.

20 | P a g e
 Interneurons
An interneuron (also called relay neuron, association neuron, connector neuron, intermediate neuron or
local circuit neuron) is one of the three classifications of neurons found in the human body.[citation
needed] Interneurons create neural circuits, enabling communication between sensory or motor
neurons and the central nervous system (CNS). They have been found to function in reflexes, neuronal
oscillations, and neurogenesis in the adult mammalian brain.

Interneurons can be further broken down into two groups: local interneurons, and relay interneurons.
Local interneurons have short axons and form circuits with nearby neurons to analyze small pieces of
information. Relay interneurons have long axons and connect circuits of neurons in one region of the
brain with those in other regions. The interaction between interneurons allow the brain to perform
complex functions such as learning, and decision-making.

Transmission of Nerve Impulses

The transmission of a nerve impulse along a neuron from one end to the other occurs as a result of
electrical changes across the membrane of the neuron. The membrane of an unstimulated neuron is
polarized—that is, there is a difference in electrical charge between the outside and inside of the
membrane. The inside is negative with respect to the outside.
Polarization is established by maintaining an excess of sodium ions (Na +) on the outside and an excess
of potassium ions (K +) on the inside. A certain amount of Na + and K + is always leaking across the
membrane through leakage channels, but Na +/K + pumps in the membrane actively restore the ions to
the appropriate side.

The main contribution to the resting membrane potential (a polarized nerve) is the difference in
permeability of the resting membrane to potassium ions versus sodium ions. The resting membrane is
much more permeable to potassium ions than to sodium ions resulting in slightly more net potassium
ion diffusion (from the inside of the neuron to the outside) than sodium ion diffusion (from the outside

21 | P a g e
Of the neuron to the inside) causing the slight difference in polarity right along the membrane of the
axon.
Other ions, such as large, negatively charged proteins and nucleic acids, reside within the cell. It is these
large, negatively charged ions that contribute to the overall negative charge on the inside of the cell
membrane as compared to the outside.

In addition to crossing the membrane through leakage channels, ions may cross through gated channels.
Gated channels open in response to neurotransmitters, changes in membrane potential, or other
stimuli.

The following events characterize the transmission of a nerve impulse (see Figure 1):

Resting potential. The resting potential describes the unstimulated, polarized state of a neuron (at about
–70 millivolts).

Graded potential. A graded potential is a change in the resting potential of the plasma membrane in the
response to a stimulus. A graded potential occurs when the stimulus causes Na + or K + gated channels
to open. If Na + channels open, positive sodium ions enter, and the membrane depolarizes (becomes
more positive). If the stimulus opens K + channels, then positive potassium ions exit across the
membrane and the membrane hyperpolarizes (becomes more negative). A graded potential is a local
event that does not travel far from its origin. Graded potentials occur in cell bodies and dendrites. Light,
heat, mechanical pressure, and chemicals, such as neurotransmitters, are examples of stimuli that may
generate a graded potential (depending upon the neuron).

Figure 1.Events that characterizes the transmission of a nerve impulse.

22 | P a g e
The following four steps describe the initiation of an impulse to the “resetting” of a neuron to prepare
for a second stimulation:

Action potential. Unlike a graded potential, an action potential is capable of traveling long distances. If a
depolarizing graded potential is sufficiently large, Na + channels in the trigger zone open. In response,
Na + on the outside of the membrane becomes depolarized (as in a graded potential). If the stimulus is
strong enough—that is, if it is above a certain threshold level—additional Na + gates open, increasing
the flow of Na + even more, causing an action potential, or complete depolarization (from –70 to about
+30 millivolts). This in turn stimulates neighboring Na + gates, farther down the axon, to open. In this
manner, the action potential travels down the length of the axon as opened Na + gates stimulate
neighboring Na + gates to open. The action potential is an all‐or‐nothing event: When the stimulus fails
to produce depolarization that exceeds the threshold value, no action potential results, but when
threshold potential is exceeded, complete depolarization occurs.

Repolarization. In response to the inflow of Na +, K + channels open, this time allowing K + on the inside
to rush out of the cell. The movement of K + out of the cell causes repolarization by restoring the
original membrane polarization. Unlike the resting potential, however, in repolarization the K + are on
the outside and the Na + are on the inside. Soon after the K + gates open, the Na + gates close.
Hyperpolarization. By the time the K + channels close, more K + have moved out of the cell than is
actually necessary to establish the original polarized
potential. Thus, the membrane becomes
hyperpolarized (about –80 millivolts).

Refractory period. With the passage of the action


potential, the cell membrane is in an unusual state of
affairs. The membrane is polarized, but the Na + and K
+ are on the wrong sides of the membrane. During this
refractory period, the axon will not respond to a new
stimulus. To reestablish the original distribution of
these ions, the Na + and K + are returned to their
resting potential location by Na +/K + pumps in the cell
membrane. Once these ions are completely returned to
their resting potential location, the neuron is ready for
another stimulus.

Nerve

A nerve is an enclosed, cable-like bundle of axons


(nerve fibers, the long and slender projections of
neurons) in the peripheral nervous system. A nerve
provides a common pathway for the electrochemical
nerve impulses that are transmitted along each of the
axons to peripheral organs.

In the central nervous system, the analogous structures


are known as tracts. Neurons are sometimes called

23 | P a g e
nerve cells, though this term is potentially misleading since many neurons do not form nerves, and
nerves also include non-neuronal Schwann cells that coat the axons in myelin.

Each nerve is a cordlike structure containing bundles of axons. Within a nerve, each axon is surrounded
by a layer of connective tissue called the endoneurium. The axons are bundled together into groups
called fascicles, and each fascicle is wrapped in a layer of connective tissue called the perineurium.
Finally, the entire nerve is wrapped in a layer of connective tissue called the epineurium.

Anatomy

Nerves are categorized into three groups based on the direction that signals are conducted:

 Afferent nerves conduct signals from sensory neurons to the central nervous system, for
example from the mechanoreceptors in skin.
 Efferent nerves conduct signals from the
central nervous system along motor
neurons to their target muscles and
glands.
Mixed nerves contain both afferent and efferent
axons, and thus conduct both incoming sensory
information and outgoing muscle commands in
the same bundle.
Nerves can be categorized into two groups based
on where they connect to the central nervous
system:

 Spinal nerves innervate (distribute


to/stimulate) much of the body, and
connect through the spinal column to the
spinal cord and thus to the central
nervous system. They are given letter-
number designations according to the
vertebra through which they connect to
the spinal column.
 Cranial nerves innervate parts of the
head, and connect directly to the brain
(especially to the brainstem). They are
typically assigned Roman numerals from 1 to 12, although cranial nerve zero is sometimes
included. In addition, cranial nerves have descriptive names.

Cross-section of a nerve
Each nerve is covered externally by a dense sheath of connective tissue, the epineurium. Underlying this
is a layer of flat cells, the perineurium, which forms a complete sleeve around a bundle of axons.
Perineurial septae extend into the nerve and subdivide it into several bundles of fibres. Surrounding
each such fibre is the endoneurium. This forms an unbroken tube from the surface of the spinal cord to
the level where the axon synapses with its muscle fibres, or ends in sensory receptors. The endoneurium
consists of an inner sleeve of material called the glycocalyx and an outer, delicate, meshwork of collagen

24 | P a g e
fibres. Nerves are bundled along with blood vessels, since the neurons of a nerve have fairly high energy
requirements.

Within the endoneurium, the individual nerve fibres are surrounded by a low protein liquid called
endoneurial fluid. This acts in a similar way to the cerebrospinal fluid in the central nervous system and
constitutes a blood-nerve barrier similar to the blood-brain barrier. Molecules are thereby prevented
from crossing the blood into the endoneurial fluid. During the development of nerve edema from nerve
irritation or (injury), the amount of endoneurial fluid may increase at the site of irritation. This increase
in fluid can be visualized using magnetic resonance neurography, and thus MR neurography can identify
nerve irritation and/or injury.

Sympathetic and Parasympathetic

The sympathetic nervous system (SNS) is one of the two main divisions of the autonomic
nervous system, the other being the parasympathetic nervous system. The autonomic nervous system
functions to regulate the body's unconscious
actions. The sympathetic nervous system's
primary process is to stimulate the body's
fight-or-flight response. It is, however,
constantly active at a basic level to maintain
homeostasis. The sympathetic nervous system
is described as being complementary to the
parasympathetic nervous system which
stimulates the body to "feed and breed" and
to (then) "rest-and-digest".

Structure
There are two kinds of neurons involved in the
transmission of any signal through the
sympathetic system: pre-ganglionic and post-
ganglionic. The shorter preganglionic neurons
originate from the thoracolumbar region of
the spinal cord specifically at T1 to L2~L3, and
travel to a ganglion, often one of the
paravertebral ganglia, where they synapse
with a postganglionic neuron. From there, the
long postganglionic neurons extend across
most of the body.

At the synapses within the ganglia,


preganglionic neurons release acetylcholine, a
neurotransmitter that activates nicotinic
acetylcholine receptors on postganglionic

25 | P a g e
neurons. In response to this stimulus postganglionic neurons—with two important exceptions—release
norepinephrine, which activates adrenergic receptors on the peripheral target tissues. The activation of
target tissue receptors causes the effects associated with the sympathetic system.

The two exceptions mentioned above are postganglionic neurons of sweat glands and chromaffin cells
of the adrenal medulla. Postganglionic neurons of sweat glands release acetylcholine for the activation
of muscarinic receptors, except for areas of thick skin, the palms and the plantar surfaces of the feet,
where norepinephrine is released and acts on adrenergic receptors. Chromaffin cells of the adrenal
medulla are analogous to post-ganglionic neurons; the adrenal medulla develops in tandem with the
sympathetic nervous system and acts as a modified sympathetic ganglion. Within this endocrine gland,
pre-ganglionic neurons synapse with chromaffin cells, stimulating the chromaffin to release
norepinephrine and epinephrine directly into the blood.

The parasympathetic nervous system (usually abbreviated PSNS, not PNS, to avoid
confusion with the peripheral nervous system [PNS]) is one of the two divisions of the autonomic
nervous system, the other being the sympathetic nervous system. The autonomic nervous system is
responsible for regulating the body's unconscious actions.
The parasympathetic system is responsible for stimulation
of "rest-and-digest" or "feed and breed" activities that
occur when the body is at rest, especially after eating,
including sexual arousal, salivation, lacrimation (tears),
urination, digestion and defecation. Its action is described
as being complementary to that of the sympathetic
nervous system, which is responsible for stimulating
activities associated with the fight-or-flight response.

Nerve fibres of the parasympathetic nervous system arise


from the central nervous system. Specific nerves include
several cranial nerves, specifically the oculomotor nerve,
facial nerve, glossopharyngeal nerve, and vagus nerve.
Three spinal nerves in the sacrum (S2-4), commonly
referred to as the pelvic splanchnic nerves, also act as
parasympathetic nerves.

Because of its location, the parasympathetic system is


commonly referred to as having "craniosacral outflow",
which stands in contrast to the sympathetic nervous
system, which is said to have "thoracolumbar outflow".

Structure
The parasympathetic nerves are autonomic or visceral
branches of the peripheral nervous system (PNS).
Parasympathetic nerve supply arises through three
primary areas:

 Some of the cranial nerves in the cranium, namely the preganglionic parasympathetic nerves
(CN III, CN VII, and CN IX) usually arise from specific nuclei in the central nervous system (CNS)
and synapse at one of four parasympathetic ganglia: ciliary, pterygopalatine, otic, or

26 | P a g e
submandibular. From these four ganglia the parasympathetic nerves complete their journey to
target tissues via trigeminal branches (ophthalmic nerve, maxillary nerve, mandibular nerve).
 The vagus nerve does not participate in these cranial ganglia as most of its parasympathetic
fibers are destined for a broad array of ganglia on or near thoracic viscera (esophagus, trachea,
heart, lungs) and abdominal viscera (stomach, pancreas, liver, kidneys). It travels all the way
down to the junction between the midgut and hindgut, just before the splenic flexure of the
transverse colon.
 The pelvic splanchnic efferent preganglionic nerve cell bodies reside in the lateral gray horn of
the spinal cord at the T12-L1 vertebral levels (the spinal cord terminates at the L1-L2 vertebrae
with the conus medullaris), and their axons exit the vertebral column as S2-S4 spinal nerves
through the sacral foramina. Their axons continue away from the CNS to synapse at an
autonomic ganglion. The parasympathetic ganglion where these preganglionic neurons synapse
will be close to the organ of innervation. This differs from the sympathetic nervous system,
where synapses between pre- and post-ganglionic efferent nerves in general occur at ganglia
that are farther away from the target organ.
As in the sympathetic nervous system, efferent parasympathetic nerve signals are carried from the
central nervous system to their targets by a system of two neurons. The first neuron in this pathway is
referred to as the preganglionic or presynaptic neuron. Its cell body sits in the central nervous system
and its axon usually extends to synapse with the dendrites of a postganglionic neuron somewhere else
in the body. The axons of presynaptic parasympathetic neurons are usually long, extending from the
CNS into a ganglion that is either very close to or embedded in their target organ. As a result, the
postsynaptic parasympathetic nerve fibers are very short.

27 | P a g e
Disorders of the Nervous System

Condition Description Cause Effect


Bell's Palsy A form of neuritis that involves Unknown. Paralysis of the
paralysis of the facial nerve causing Spontaneous facial nerve
weakness of the muscles of one side of recovery is not Weakness of the
the face and an inability to close the unknown. muscles of one
eye. side of the face,
which can result
in inability to
close the affected
eye
In some cases the
patient's hearing
is also affected in
such a way that
sounds seem to
him / her to be
abnormally loud.
Loss of taste
sensation may
also occur.
Cerebal Palsy A non-progressive disorder of Cerebal palsy is The most
movement resulting from damage to attributed to common
the brain before, during, or damage to the disability is a
immediately after birth. brain, generally spastic paralysis.
occuring before, Sensation is often
during, or affected leading
immediately after to a lack of
birth. balance.
It is often Intelligence,
associated with posture and
other neurological speech are
and mental frequently
problems.There impaired.
are many causes Contractures of
including birth the limbs may
injury, hypoxia, cause fixed
hypoglycaemia, abnormalities.
jaundice and Other associated
infection. features include
epilepsy, visual
impairment,
squint, reduced
hearing, and

28 | P a g e
behavioural
problems.
Motor Neurone A progressive degenerative disease of Some forms of Motor neurone
Disease the motor system occurring in middle motor neurone disease primarily
age and causing muscle weakness and disease are affects the cells
wasting. inherited. of the anterior
horn of the spinal
cord, the motor
nuclei in the
brainstem, and
the corticospinal
fibres.
Multiple Sclerosis A chronic disease of the nervous The myelin Multiple Sclerosis
system that can affect young and sheaths (MS) affects
middle-aged adults. surrounding different parts of
The course of this illness usually nerves in the brain the brain and
involves recurrent relapses followed by and spinal cord spinal cord,
remissions, but some patients are damaged, resulting in
experience a chronic progressive which affects the typically
course. function of the scattered
nerves involved. symptoms.
The underlying These can
cause of the nerve include:
damage remains Unsteady gait
unknown. and shaky
movement of the
limbs (ataxia)
Rapid involuntary
movements of
the eyes
(nystagmus)
Defects in speech
pronunciation
(dysarthria)
Spastic weakness
and retrobulbar
neuritis (=
inflammation of
the optic nerve)
Myalgic A condition characterized by extreme Unknown. Extreme disabling
Encephalomyelitis disabling fatigue that has lasted for at Often occurs as a fatigue that has
(ME) least six months, is made worse by sequel to such lasted for at least
physical or mental exertion, does not viral infections as six months, is
resolve with bed rest, and cannot be glandular fever. made worse by
attributed to other disorders. physical or
mental exertion,
does not resolve
with bed rest,

29 | P a g e
and cannot be
attributed to
other disorders.
The fatigue is
accompanied by
at least some of
the following:
Muscle pain or
weakness
Poor co-
ordination
Joint pain
Sore throat
Slight fever
Painful lymph
nodes in the neck
and armpits
Depression
Inability to
concentrate
General malaise
Neuralgia Maybe due to A severe burning
previous attack of or stabbing pain
shingles often following
(Postherpetic the course of a
Neuralgia). nerve.
Neuritis A disease of the Inflammation of the nerves, which may
peripheral nerves be painful.
showing the
pathological
changes of
inflammation.
The word
'neuritis' is also
used, less
precisely, to refer
to any disease of
the peripheral
nerves, usually
causing
weakness and
numbness.
Parkinson's Disease Degenerative Associated with a Tremor, rigidity and poverty of
disease process deficiency of the spontaneous movements.
(associated with neurotransmitter The commonest symptom is tremor,
aging) that dopamine. which often affects one hand,
affects the basal Also associated spreading first to the leg on the same
ganglia of the with aging. side then to the other limbs. It is most

30 | P a g e
brain. profound in resting limbs, interfering
with such actions as holding a cup.
The patient has an expressionless face,
an unmodulated voice, an increasing
tendency to stoop, and a shuffling
walk.
Sciatica A common Usually caused by Pain felt down the back and outer side
condition arising degeneration of an of the thigh, leg, and foot. The back is
from intervertebral disc, stiff and painful. There may be
compression of, which protrudes numbness and weakness in the leg.
or damage to, a laterally to
nerve or nerve compress a lower
root. lumbar or an upper
sacral spinal nerve
root.The onset may
be sudden, brought
on by an awkward
lifting or twisting
movement.

31 | P a g e
Endocrine Disorders

The endocrine system is a network of glands that produce and release hormones that help control many
important body functions, including the body's ability to change calories into energy that powers cells
and organs. The endocrine system influences how your heart beats, how your bones and tissues grow,
even your ability to make a baby. It plays a vital role in whether or not you develop diabetes, thyroid
disease, growth disorders, sexual dysfunction, and a host of other hormone-related disorders.

Glands of the Endocrine System

Each gland of the endocrine system releases specific hormones into your bloodstream. These hormones
travel through your blood to other cells and help control or coordinate many body processes.

Endocrine glands include:


 Adrenal glands: Two glands that sit on top of the kidneys that release the hormone cortisol.
 Hypothalamus: A part of the lower middle brain that tells the pituitary gland when to release
hormones.
 Ovaries: The female reproductive organs that release eggs and produce sex hormones.
 Islet cells in the pancreas: Cells in the pancreas control the release of the hormones insulin and
glucagon.
 Parathyroid: Four tiny glands in the neck that play a role in bone development.
 Pineal gland: A gland found near the center of the brain that may be linked to sleep patterns.
 Pituitary gland: A gland found at the base of brain behind the sinuses. It is often called the
"master gland" because it influences many other glands, especially the thyroid. Problems with
the pituitary gland can affect bone growth, a woman's menstrual cycles, and the release of
breast milk.
 Testes: The male reproductive glands that produce sperm and sex hormones.
 Thymus: A gland in the upper chest that helps develop the body's immune system early in life.
 Thyroid: A butterfly-shaped gland in the front of the neck that controls metabolism.
Even the slightest hiccup with the function of one or more of these glands can throw off the delicate
balance of hormones in your body and lead to an endocrine disorder, or endocrine disease.

Causes of Endocrine Disorders:

Endocrine disorders are typically grouped into two categories:

Endocrine disease that results when a gland produces too much or too little of an endocrine hormone,
called a hormone imbalance.
Endocrine disease due to the development of lesions (such as nodules or tumors) in the endocrine
system, which may or may not affect hormone levels.

The endocrine's feedback system helps control the balance of hormones in the bloodstream. If your
body has too much or too little of a certain hormone, the feedback system signals the proper gland or
glands to correct the problem. A hormone imbalance may occur if this feedback system has trouble
keeping the right level of hormones in the bloodstream, or if your body doesn't clear them out of the
bloodstream properly.

32 | P a g e
Increased or decreased levels of endocrine hormone may be caused by:

 A problem with the endocrine feedback system


 Disease
 Failure of a gland to stimulate another gland to release hormones (for example, a problem with
the hypothalamus can disrupt hormone production in the pituitary gland)
 A genetic disorder, such as multiple endocrine neoplasia (MEN) or congenital hypothyroidism
 Infection
 Injury to an endocrine gland
 Tumor of an endocrine gland

Most endocrine tumors and nodules (lumps) are noncancerous. They usually do not spread to other
parts of the body. However, a tumor or nodule on the gland may interfere with the gland's hormone
production.

Types of Endocrine Disorders:


There are many different types of endocrine disorders.

 Diabetes is the most common endocrine disorder diagnosed in the U.S.

Other endocrine disorders include:

 Adrenal insufficiency. The adrenal gland releases too little of the hormone cortisol and
sometimes, aldosterone. Symptoms include fatigue, stomach upset, dehydration, and skin
changes. Addison's disease is a type of adrenal insufficiency.
 Cushing's disease. Overproduction of a pituitary gland hormone leads to an overactive adrenal
gland. A similar condition called Cushing's syndrome may occur in people, particularly children,
who take high doses of corticosteroid medications.
 Gigantism (acromegaly) and other growth hormone problems. If the pituitary gland produces
too much growth hormone, a child's bones and body parts may grow abnormally fast. If growth
hormone levels are too low, a child can stop growing in height.
 Hyperthyroidism. The thyroid gland produces too much thyroid hormone, leading to weight
loss, fast heart rate, sweating, and nervousness. The most common cause for an overactive
thyroid is an autoimmune disorder called Grave's disease.
 Hypothyroidism. The thyroid gland does not produce enough thyroid hormone, leading to
fatigue, constipation, dry skin, and depression. The underactive gland can cause slowed
development in children. Some types of hypothyroidism are present at birth.
 Hypopituitarism. The pituitary gland releases little or no hormones. It may be caused by a
number of different diseases. Women with this condition may stop getting their periods.
 Multiple endocrine neoplasia I and II (MEN I and MEN II). These rare, genetic conditions are
passed down through families. They cause tumors of the parathyroid, adrenal, and thyroid
glands, leading to overproduction of hormones.
 Polycystic ovary syndrome (PCOS). Overproduction of androgens interfere with the
development of eggs and their release from the female ovaries. PCOS is a leading cause of
infertility.

33 | P a g e
 Precocious puberty. Abnormally early puberty that occurs when glands tell the body to release
sex hormones too soon in life.

Testing for Endocrine Disorders

If you have an endocrine disorder, your doctor may refer you to a specialist called an endocrinologist. An
endocrinologist is specially trained in problems with the endocrine system.

The symptoms of an endocrine disorder vary widely and depend on the specific gland involved.
However, most people with endocrine disease complain of fatigue and weakness.

Blood and urine tests to check your hormone levels can help your doctors determine if you have an
endocrine disorder. Imaging tests may be done to help locate or pinpoint a nodule or tumor.

Treatment of endocrine disorders can be complicated, as a change in one hormone level can throw off
another. Your doctor or specialist may order routine blood work to check for problems or to determine
if your medication or treatment plan needs to be adjusted.
(WebMD Medical Reference Reviewed by Michael Dansinger, MD on August 27, 2015)

Brain Structures and their Functions


 Cerebrum
 Cerebellum
 Limbic System
 Brain Stem

The brain is made of three main parts: the forebrain, midbrain, and hindbrain. The forebrain consists of
the cerebrum, thalamus, and hypothalamus (part of the limbic system). The midbrain consists of the
tectum and tegmentum. The hindbrain is made of the cerebellum, pons and medulla. Often the
midbrain, pons, and medulla are referred to together as the brainstem.

 The Cerebrum: The cerebrum or cortex is the largest part of the human brain, associated with
higher brain function such as thought and action. The cerebral cortex is divided into four
sections, called "lobes": the frontal lobe, parietal lobe, occipital lobe, and temporal lobe. Here is
a visual representation of the cortex:

34 | P a g e
What do each of these lobes do?

 Frontal Lobe- associated with reasoning, planning, parts of speech, movement, emotions, and
problem solving
 Parietal Lobe- associated with movement, orientation, recognition, perception of stimuli
 Occipital Lobe- associated with visual processing
 Temporal Lobe- associated with perception and recognition of auditory stimuli, memory, and
speech

Note: that the cerebral cortex is highly wrinkled. Essentially this makes the brain more efficient,
because it can increase the surface area of the brain and the amount of neurons within it. We
will discuss the relevance of the degree of cortical folding (or gyrencephalization) later. (Go here
for more information about cortical folding)

A deep furrow divides the cerebrum into two halves, known as the left and right hemispheres.
The two hemispheres look mostly symmetrical yet it has been shown that each side functions
slightly different than the other. Sometimes the right hemisphere is associated with creativity
and the left hemispheres is associated with logic abilities. The corpus callosum is a bundle of
axons which connects these two hemispheres.

Nerve cells make up the gray surface of the cerebrum which is a little thicker than your thumb.
White nerve fibers underneath carry signals between the nerve cells and other parts of the brain
and body.

The neocortex occupies the bulk of the cerebrum. This is a six-layered structure of the cerebral
cortex which is only found in mammals. It is thought that the neocortex is a recently evolved
structure, and is associated with "higher" information processing by more fully evolved animals
(such as humans, primates, dolphins, etc). For more information about the neocortex, click here.

The Cerebellum: The cerebellum, or "little brain", is similar to the cerebrum in that it has two
hemispheres and has a highly folded surface or cortex. This structure is associated with
regulation and coordination of movement, posture, and balance.

 The cerebellum is assumed to be much older than the cerebrum, evolutionarily. What do I mean
by this? In other words, animals which scientists assume to have evolved prior to humans, for
example reptiles, do have developed cerebellums. However, reptiles do not have neocortex. Go
here for more discussion of the neocortex or go to the following web site for a more detailed
look at evolution of brain structures and intelligence: "Ask the Experts": Evolution and
Intelligence

 Limbic System: The limbic system, often referred to as the "emotional brain", is found buried
within the cerebrum. Like the cerebellum, evolutionarily the structure is rather old.

35 | P a g e
This system contains the thalamus, hypothalamus, amygdala, and hippocampus. Here is a visual
representation of this system, from a midsagittal view of the human brain:

Brain Stem: Underneath the limbic system is the brain stem. This structure is responsible for basic vital
life functions such as breathing, heartbeat, and blood pressure. Scientists say that this is the "simplest"
part of human brains because animals' entire brains, such as reptiles (who appear early on the
evolutionary scale) resemble our brain stem. Look at a good example of this here.

 Thalamus- a large mass of gray matter deeply situated in the forebrain at the topmost portion
of the diencephalon. The structure has sensory and motor functions. Almost all sensory
information enters this structure where neurons send that information to the overlying cortex.
Axons from every sensory system (except olfaction) synapse here as the last relay site before
the information reaches the cerebral cortex.
 Hypothalamus- part of the diencephalon, ventral to the thalamus. The structure is involved in
functions including homeostasis, emotion, thirst, hunger, circadian rhythms, and control of the
autonomic nervous system. In addition, it controls the pituitary.
 Amygdala- part of the telencephalon, located in the temporal lobe; involved in memory,
emotion, and fear. The amygdala is both large and just beneath the surface of the front, medial
part of the temporal lobe where it causes the bulge on the surface called the uncus. This is a
component of the limbic system.
 Hippocampus-the portion of the cerebral hemisphers in basal medial part of the temporal lobe.
This part of the brain is important for learning and memory . . . for converting short term
memory to more permanent memory, and for recalling spatial relationships in the world about
us.

36 | P a g e
The brain stem is made of the midbrain, pons, and medulla.
 Midbrain / Mesencephalon- the rostral part of the brain stem, which includes the tectum and
tegmentum. It is involved in functions such as vision, hearing, eyemovement, and body
movement. The anterior part has the cerebral peduncle, which is a huge bundle of axons
traveling from the cerebral cortex through the brain stem and these fibers (along with other
structures) are important for voluntary motor function.
 Pons- part of the metencephalon in the hindbrain. It is involved in motor control and sensory
analysis... for example, information from the ear first enters the brain in the pons. It has parts
that are important for the level of consciousness and for sleep. Some structures within the pons
are linked to the cerebellum, thus are involved in movement and posture.
 Medulla- this structure is the caudal-most part of the brain stem, between the pons and spinal
cord. It is responsible for maintaining vital body functions, such as breathing and heart-rate.

DNA

Deoxyribonucleic acid- is a molecule that carries the genetic instructions used in the growth,
development, functioning and reproduction of all known living organisms and many viruses. DNA and
RNA are nucleic acids; alongside proteins, lipids and complex carbohydrates (polysaccharides), they are
one of the four major types of macromolecules that are essential for all known forms of life. Most DNA
molecules consist of two biopolymer strands coiled around each other to form a double helix.

37 | P a g e
The two DNA strands are termed polynucleotides since they are composed of simpler monomer units
called nucleotides. Each nucleotide is composed of one of four nitrogen-containing nucleobases—either
cytosine (C), guanine (G), adenine (A), or thymine (T)—and a sugar called deoxyribose and a phosphate
group. The nucleotides are joined to one another in a chain by covalent bonds between the sugar of one
nucleotide and the phosphate of the next, resulting in an alternating sugar-phosphate backbone. The
nitrogenous bases of the two separate polynucleotide strands are bound together (according to base
pairing rules (A with T, and C with G) with hydrogen bonds to make double-stranded DNA. The total
amount of related DNA base pairs on Earth is estimated at 5.0 x 1037 and weighs 50 billion tonnes. In
comparison, the total mass of the biosphere has been estimated to be as much as 4 trillion tons of
carbon (TtC).

DNA stores biological information. The DNA backbone is resistant to cleavage, and both strands of the
double-stranded structure store the same biological information. This information is replicated as and
when the two strands separate. A large part of DNA (more than 98% for humans) is non-coding,
meaning that these sections do not serve as patterns for protein sequences.

The two strands of DNA run in opposite directions to each other and are thus antiparallel. Attached to
each sugar is one of four types of nucleobases (informally, bases). It is the sequence of these four
nucleobases along the backbone that encodes biological information. RNA strands are created using
DNA strands as a template in a process called transcription. Under the genetic code, these RNA strands
are translated to specify the sequence of amino acids within proteins in a process called translation.

Within eukaryotic cells, DNA is organized into long structures called chromosomes. During cell division
these chromosomes are duplicated in the process of DNA replication, providing each cell its own
complete set of chromosomes. Eukaryotic organisms (animals, plants, fungi, and protists) store most of
their DNA inside the cell nucleus and some of their DNA in organelles, such as mitochondria or
chloroplasts. In contrast, prokaryotes (bacteria and archaea) store their DNA only in the cytoplasm.
Within the eukaryotic chromosomes, chromatin proteins such as histones compact and organize DNA.
These compact structures guide the interactions between DNA and other proteins, helping control
which parts of the DNA are transcribed.

DNA was first isolated by Friedrich Miescher in 1869. Its molecular structure was identified by James
Watson and Francis Crick in 1953, whose model-building efforts were guided by X-ray diffraction data
acquired by Rosalind Franklin. DNA is used by researchers as a molecular tool to explore physical laws
and theories, such as the ergodic theorem and the theory of elasticity. The unique material properties of
DNA have made it an attractive molecule for material scientists and engineers interested in micro- and
nano-fabrication. Among notable advances in this field are DNA origami and DNA-based hybrid
materials.

Supercoiling
DNA can be twisted like a rope in a process called DNA supercoiling. With DNA in its "relaxed" state, a
strand usually circles the axis of the double helix once every 10.4 base pairs, but if the DNA is twisted
the strands become more tightly or more loosely wound. If the DNA is twisted in the direction of the
helix, this is positive supercoiling, and the bases are held more tightly together. If they are twisted in the
opposite direction, this is negative supercoiling, and the bases come apart more easily. In nature, most
DNA has slight negative supercoiling that is introduced by enzymes called topoisomerases. These
enzymes are also needed to relieve the twisting stresses introduced into DNA strands during processes
such as transcription and DNA replication.

38 | P a g e
Chromosomes

A chromosome is a packaged and organized structure containing most of the DNA of a living organism.
Most eukaryotic cells have a set of chromosomes (46 in humans) with the genetic material spread
among them.

During most of the duration of the cell cycle, a chromosome consists of one long double-helix DNA
molecule (with associated proteins). During S phase, the chromosome gets replicated, resulting in an X-
shaped structure called a metaphase chromosome. Both the original and the newly copied DNA are now
called chromatids. The two "sister" chromatids are joined together at a protein junction called a
centromere (forming the X-shaped structure).

Chromosomes are normally visible under a light microscope only when the cell is undergoing mitosis
(cell division). Even then, the full chromosome containing both joined sister chromatids becomes visible
only during a sequence of mitosis known as metaphase (when chromosomes align together, attached to
the mitotic spindle and prepare to divide).[1] This DNA and its associated proteins and macromolecules
is collectively known as chromatin, which is further packaged along with its associated molecules into a
discrete structure called a nucleosome. Chromatin is present in most cells, with a few exceptions, for
example, red blood cells. Occurring only in the nucleus of eukaryotic cells, chromatin composes the vast
majority of all DNA, except for a small amount inherited maternally, which is found in mitochondria.

Diagram of a replicated and


condensed metaphase eukaryotic
chromosome.
(1) Chromatid – one
of the two identical parts of the chromosome after S
phase.
(2) Centromere – the point
where the two chromatids
touch.
(3) Short arm.
(4) Long arm.

In prokaryotic cells, Chromatin occurs free-floating in cytoplasm, as these cells lack

39 | P a g e
organelles and a defined nucleus. Bacteria also lack histones. The main information-carrying
macromolecule is a single piece of coiled double-helix DNA, containing many genes, regulatory elements
and other noncoding DNA. The DNA-bound macromolecules are proteins that serve to package the DNA
and control its functions. Chromosomes vary widely between different organisms. Some species such as
certain bacteria also contain plasmids or other extrachromosomal DNA. These are circular structures in
the cytoplasm that contain cellular DNA and play a role in horizontal gene transfer.

Compaction of the duplicated chromosomes during cell division (mitosis or meiosis) results either in a
four-arm structure (pictured above) if the centromere is located in the middle of the chromosome or a
two-arm structure if the centromere is located near one of the ends. Chromosomal recombination
during meiosis and subsequent sexual reproduction plays a significant role in genetic diversity. If these
structures are manipulated incorrectly, through processes known as chromosomal instability and
translocation, the cell may undergo mitotic catastrophe and die, or it may unexpectedly evade apoptosis
leading to the progression of cancer.

In prokaryotes (see nucleoids) and viruses, the DNA is often densely packed and organized: in the case
of archaea, by homologs to eukaryotic histones, and in the case of bacteria, by histone-like proteins.
Small circular genomes called plasmids are often found in bacteria and also in mitochondria and
chloroplasts, reflecting their bacterial origins.

Some authors, as in this article, use the term chromosome in a wider sense, to refer to the individualized
portions of chromatin in cells, either visible or not under light microscopy. However, others use the
concept in a narrower sense, to refer to the individualized portions of chromatin during cell division,
visible under light microscopy due to high condensation.

Gene
A gene is a locus (or region) of DNA which is made up of nucleotides and is the molecular unit of
heredity. The transmission of genes to an organism's offspring is the basis of the inheritance of
phenotypic traits. Most biological traits are under the influence of polygenes (many different genes) as
well as gene–environment interactions. Some genetic traits are instantly visible, such as eye colour or
number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of
basic biochemical processes that comprise life.

A gene is a region of DNA that encodes function.


A chromosome consists of a long strand of DNA
containing many genes. A human chromosome can
have up to 500 million base pairs of DNA with
thousands of
genes.

40 | P a g e
Genes can acquire mutations in their sequence, leading to different variants, known as alleles, in the
population. These alleles encode slightly different versions of a protein, which cause different
phenotype traits. Colloquial usage of the term "having a gene" (e.g., "good genes," "hair colour gene")
typically refers to having a different allele of the gene. Genes evolve due to natural selection or survival
of the fittest of the alleles.

The concept of a gene continues to be refined as new phenomena are discovered. For example,
regulatory regions of a gene can be far removed from its coding regions, and coding regions can be split
into several exons. Some viruses store their genome in RNA instead of DNA and some gene products are
functional non-coding RNAs. Therefore, a broad, modern working definition of a gene is any discrete
locus of heritable, genomic sequence which affect an organism's traits by being expressed as a
functional product or by regulation of gene expression.

DNA Transcription, Replication, Translation

Transcription is the first step of gene expression, in which a particular segment of DNA is copied
into RNA (especially mRNA) by the enzyme RNA polymerase. Both DNA and RNA are nucleic acids, which
use base pairs of nucleotides as a complementary language. During transcription, a DNA sequence is
read by an RNA polymerase, which produces a complementary, antiparallel RNA strand called a primary
transcript.

Transcription proceeds in the following general steps:

1. RNA polymerase, together with one or more general transcription factors, binds to promoter
DNA.
2. RNA polymerase creates a transcription bubble, which separates the two strands of the DNA
helix. This is done by breaking the hydrogen bonds between complementary DNA nucleotides.
3. RNA polymerase adds RNA nucleotides (which are complementary to the nucleotides of one
DNA strand).
4. RNA sugar-phosphate backbone forms with assistance from RNA polymerase to form an RNA
strand.
5. Hydrogen bonds of the RNA–DNA helix break, freeing the newly synthesized RNA strand.
6. If the cell has a nucleus, the RNA may be further processed. This may include polyadenylation,
capping, and splicing.
7. The RNA may remain in the nucleus or exit to the cytoplasm through the nuclear pore complex.

The stretch of DNA transcribed into an RNA molecule is called a transcription unit and encodes at least one
gene. If the gene encodes a protein, the transcription produces messenger RNA (mRNA); the mRNA in turn
serves as a template for the protein's synthesis through translation. Alternatively, the transcribed gene may
encode for either non-coding RNA (such as microRNA), ribosomal RNA (rRNA), transfer RNA (tRNA), or other
enzymatic RNA molecules called ribozymes. Overall, RNA helps synthesize, regulate, and process proteins; it
therefore plays a fundamental role in performing functions within a cell.

41 | P a g e
In virology, the term may also be used when referring to mRNA synthesis from an RNA molecule (i.e.,
RNA replication). For instance, the genome of a negative-sense single-stranded RNA (ssRNA -) virus may
be template for a positive-sense single-stranded RNA (ssRNA +). This is because the positive-sense
strand contains the information needed to translate the viral proteins for viral replication afterwards.
This process is catalyzed by a viral RNA replicase.

42 | P a g e
In molecular biology, DNA replication is the biological process of producing two identical replicas
of DNA from one original DNA molecule. This process occurs in all living organisms and is the basis for
biological inheritance. DNA is made up of a double helix of two complementary strands. During
replication, these strands are separated. Each strand of the original DNA molecule then serves as a
template for the production of its counterpart, a process referred to as semiconservative replication.
Cellular proofreading and error-checking mechanisms ensure near perfect fidelity for DNA replication.

In a cell, DNA replication begins at specific locations, or origins of replication, in the genome.[3]
Unwinding of DNA at the origin and synthesis of new strands results in replication forks growing bi-
directionally from the origin. A number of proteins are associated with the replication fork to help in the
initiation and continuation of DNA synthesis. Most prominently, DNA polymerase synthesizes the new
strands by adding nucleotides that complement each (template) strand. DNA replication occurs during
the S-stage of interphase.

DNA replication can also be performed in vitro (artificially, outside a cell). DNA polymerases isolated
from cells and artificial DNA primers can be used to initiate DNA synthesis at known sequences in a
template DNA molecule. The polymerase chain reaction (PCR), a common laboratory technique,
cyclically applies such artificial synthesis to amplify a specific target DNA fragment from a pool of DNA.

DNA replication: The double helix is un'zipped' and unwound,


then each separated strand (turquoise) acts as
a template for
replicating a new partner strand (green).
Nucleotides (bases) are matched to synthesize
the new partner strands into
two new double helices.

43 | P a g e
In molecular biology and genetics, Translation is the process in which ribosomes in a cell's
cytoplasm create proteins, following transcription of DNA to RNA in the cell's nucleus. The entire
process is a part of gene expression.

In translation, messenger RNA (mRNA) is decoded by a ribosome, outside the nucleus, to produce a
specific amino acid chain, or polypeptide. The polypeptide later folds into an active protein and
performs its functions in the cell. The ribosome facilitates decoding by inducing the binding of
complementary tRNA anticodon sequences to mRNA codons. The tRNAs carry specific amino acids that
are chained together into a polypeptide as the mRNA passes through and is "read" by the ribosome.

Translation proceeds in three phases:

 Initiation: The ribosome assembles around the target mRNA. The first tRNA is attached at the
start codon.
 Elongation: The tRNA transfers an amino acid to the tRNA corresponding to the next codon. The
ribosome then moves (translocates) to the next mRNA codon to continue the process, creating
an amino acid chain.
 Termination: When a stop codon is reached, the ribosome releases the polypeptide.
In bacteria, translation occurs in the cytoplasm, where the large and small subunits of the ribosome
bind to the mRNA. In eukaryotes, translation occurs in the cytosol or across the membrane of the
endoplasmic reticulum in a process called vectorial synthesis. In many instances, the entire
ribosome/mRNA complex binds to the outer membrane of the rough endoplasmic reticulum (ER);
the newly created polypeptide is stored inside the ER for later vesicle transport and secretion
outside of the cell.

Diagram showing the translation of mRNA and the synthesis of proteins by a ribosome

44 | P a g e
Many types of transcribed RNA, such as transfer RNA, ribosomal RNA, and small nuclear RNA, do not
undergo translation into proteins.

A number of antibiotics act by inhibiting translation. These include anisomycin, cycloheximide,


chloramphenicol, tetracycline, streptomycin, erythromycin, and puromycin. Prokaryotic ribosomes have
a different structure from that of eukaryotic ribosomes, and thus antibiotics can specifically target
bacterial infections without any harm to a eukaryotic host's cells.

45 | P a g e
Karyotype

Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of
body cells. Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause
problems with a person's growth, development, and body functions.

Test Overview
Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of
body cells. Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause
problems with a person's growth, development, and body functions.

Why It Is Done?
Karyotyping is done to:
• Find out whether the chromosomes of an adult have a change that can be passed on to a child.
• Find out whether a chromosome defect is preventing a woman from becoming pregnant or is
causing miscarriages.
• Find out whether a chromosome defect is present in a fetus. Karyotyping also may be done to
find out whether chromosomal problems may have caused a
fetus to be stillborn.
• Find out the cause of a baby's birth defects or disability.
• Help determine the appropriate treatment for some types of cancer.
• Identify the sex of a person by checking for the presence of the Y chromosome. This may be
done when a newborn's sex is not clear.

Results:
Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of
body cells.

Normal:
• There are 46 chromosomes that can be grouped as 22 matching pairs and 1 pair of sex
chromosomes (XX for a female and XY for a male).
• The size, shape, and structure are normal for each chromosome.
Abnormal:
• There are more than or fewer than 46 chromosomes.
• The shape or size of one or more chromosomes is abnormal.
• A chromosome pair may be broken or incorrectly separated.

What Affects the Test


If you are being treated for cancer, the results of a karyotype test may not be accurate. Chromosomes
may be damaged by some types of cancer treatment.

46 | P a g e
What To Think About
If the results of karyotype are abnormal, other family members may be advised to have the test.
A sample taken by gently swabbing the tissues inside the cheek (called a buccal swab) sometimes is used
for a karyotype test. But results from buccal swabbing are less accurate than other types of karyotype
tests.
Sometimes a karyotype test is combined with other genetic tests to provide more specific information
about genetic problems. To learn more, see the topic Genetic Test.

Gel electrophoresis is a laboratory method used to separate mixtures of DNA, RNA, or proteins
according to molecular size. In gel electrophoresis, the molecules to be separated are pushed by an
electrical field through a gel that contains small pores. The molecules travel through the pores in the gel
at a speed that is inversely related to their lengths. This means that a small DNA molecule will travel a
greater distance through the gel than will a larger DNA molecule.

As previously mentioned, gel electrophoresis involves an electrical field; in particular, this field is applied
such that one end of the gel has a positive charge and the other end has a negative charge. Because
DNA and RNA are negatively charged molecules, they will be pulled toward the positively charged end of
the gel. Proteins, however, are not negatively charged; thus, when researchers want to separate
proteins using gel electrophoresis, they must first mix the proteins with a detergent called sodium
dodecyl sulfate. This treatment makes the proteins unfold into a linear shape and coats them with a
negative charge, which allows them to migrate toward the positive end of the gel and be separated.
Finally, after the DNA, RNA, or protein molecules have been separated using gel electrophoresis, bands
representing molecules of different sizes can be detected.

• Gel electrophoresis is a technique commonly used in laboratories to separate charged molecules


like DNA, RNA and proteins according to their size.
• Charged molecules move through a gel when an electric current is passed across it.
• An electric current is applied across the gel so that one end of the gel has a positive charge and
the other end has a negative charge.
• The movement of charged molecules is called migration. Molecules migrate towards the
opposite charge. A molecule with a negative charge will therefore be pulled towards the positive end
(opposites attract!).
• The gel consists of a permeable matrix, a bit like a sieve, through which molecules can travel
when an electric current is passed across it.
• Smaller molecules migrate through the gel more quickly and therefore travel further than larger
fragments that migrate more slowly and therefore will travel a shorter distance. As a result the
molecules are separated by size.

Illustration of DNA electrophoresis equipment used to


separate DNA fragments by size. A gel sits within a tank of
buffer. The DNA samples are placed in wells at one end of
the gel and an electrical current passed across the gel. The
negatively-charged DNA moves towards the postive
electrode. Image credit: Genome Research Limited

47 | P a g e
.

Nothing Follows…

48 | P a g e
49 | P a g e
50 | P a g e

Vous aimerez peut-être aussi