USMLE STEP ONE

CHAPTER 2 - BIOQUEMISTRY
1. BIOCHEMISTRY - MOLECULAR

CHROMATIN STRUCTURE
o
Heterochromatin
o
Euchromatin
o
DNA Methylation
o
Histone Methylation
o
Histone Acethylation
NUCLEOTIDES (PURe As Gold - CUT the PY)
DE NOVO PURINE AND PYRIDIME SYNTESIS
o
DISRUPT PIRIDIMINE SYNTESIS
o
Leflunamide: Dihydroorotate Dehydrogenase
o
Metotrexate-TMP-Pirimenthamine: Dihydrofolate Reductase
o
5-Fluoruracil: Thymidylate Synthase
o
DISRUPT PURINE SYNTESIS
o
6 Mercaptopurine: Inhibit de Novo Purine Syntesis
o
Mycophenolate - Ribavirin: Inosine Monophosphate Dehydrogenase
o
DISRUPTS PURINE AND PIRIDIMEN SYNTESIS
o
Hidroxyurea: Ribonucleotide Reductase
PURINE SALVATAGES DEFICIENCIES
o
ADA Deficiency
o
Lesch Nihan Syndrome - HGPTR
GENETIC CODE FEATURES
o
Unambigous
o
Redundant
o
Nonoverlapping
o
Universal
DNA REPLICATION
o
Origin of Replication
o
Replication Fork
o
Helicase
o
Single Stranded Binding Proteins
o
DNA Topoisomerases
o
Primasa
o
DNA Polymerase III
o
DNA Polymerase I
o
DNA Ligase
o
Telomerase
MUTATIONS IN DNA (Transition vs Transversion)
o
Silent
o
Missense
o
Nosense
o
Frameshit
o
Splice Site
LAC OPERATION
DNA REPAIR

SINGLE STRAND
o
Nucleotide Excision Repair
o
Base Excision Repair
o
Mismatch Repair
o
DOUBLE STRAND
o
Nonhomologous End Joining
DNA RNA SYNTESIS DIRECTION
START AND STOP CODONS mRNA
o
Start - AUG
o
Stop - UGA UAA UAG
FUNTIONAL ORGANITACION OF A GENE
REGULATION OF GENE EXPRESSION
o
Promoter (TATA - CAAT BOXES)
o
Enhancer
o
Silencer
RNA POLYMERASES
o
EUKARIOTES (RNA POLYMERASE I rRNA - II mRNA - III tRNA)
o
RNA Polymerase III inhibited by A Amantin - Rifampin - Actinomicyn III
o
PROKARIOTES (ONLY ONE RNA POLYMERASA)
RNA PROCCESING (Capping, Polyadenylation End AAUAAA, Splicing Introns)
SPLICINF OF PRE mRNA (Splisosome - Larriat Shaped Form - Release) (Anti Sm
- Anti U1 RNP)
INTRONS VS EXONS (Onchogen - B Thalassemia)
MICRO RNA
tRNA
o
Structure - T arm D arm Acceptor Stem/CCA
o
Charging Aminoacyl tRNA Synthetase
o
Wooble
PROTEIN SYNTESIS
o
Initation - By GTP (Eukaryotes: 40S + 60S 80S) (PrOkaryotes: 30S + 50S 70S)
o
Elongation - APE COMPLEX
o
Termination
POSTTRANLATIONAL MODIFICATIONS (Triming/Covalent Alterations)
CHAPERONE PROTEINS

2. BIOCHEMISTRY CELLULAR

CELL CYCLE FASES

CELL CYLCE REGULATORS
o
CDK
o
Ciclins
o
CDK-Ciclin Complek
o
Tummor Supresors (P53-P21-Rb)
CELL TYPES (Permanent - Stable - Labile)
ROUGH ENDOPLASMIC RETICULUM
SMOOTH ENDOPLASMIC RETICULUM
CELL TRAFICKING
o
I Cell Disease
o
SRP Signal Recognition Particle

o
Vesicular Traffiking Proteins (COPI - COPII - CLATHRIN)
PEROSIXOMA
PROTEOSOME
CYTOESQUELETAL ELEMENTS
o
Microfilaments
o
Intermediate Filaments
o
Microtubules
IMUNOHISTOQUIMICAL STAINS FOR MICROFILAMENTS
o
Vimetin
o
Desmin
o
Cytokeratin
o
GFAP
o
Nuerofilaments
MICROTUBULE (Microtubules Get Constructed Very Poorly)
CILIA STRUCTURE (Kartagener Syndrome)
PLASMA MEMBRANE COMPOSITION
SODIUM POTASIUM PUMP
COLLAGEN
o
Type I - Bone
o
Type II - Cartilage
o
Type III - Reticulin and Blood Vessels
o
Type IV - Basement Membrane
COLLAGEN SYNSTESIS
o
Syntesis
o
Hydroxilation - Scurby
o
Glycosilation - Osteogenesis Imperfecta
o
Exocytosis
o
Proteolitic Processing
o
Cross Linking - Ehlers Danlos Syndrome/Menkes Disease
OSTEOGENESIS IMPERFECTA - EHLERS DANLOS DISEASE - MENKES DISEASE
ELASTIN

3. LABORATORY TECHNIQUES

POLYMERASA CHAIN REACTION (Dennaturation - Annealing - Elongation)

BLOTTING PROCEDURES
o
Southern Blot - DNA
o
Northern Blot - RNA
o
Western Blot - Proteins
o
SouthWestern Blot - DNA Binding Proteins
FLOW CITOMETRY
MICROARRAYS
o
Single Nucleotide Polymorfirms
o
Copy Number Variations
ENZIME LINKED IMMUNOSORBETN ASSAY
KARYOTYPING
FLOURESENT IN SITU HYBRIDATION
o
Microdeletion
o
Translocation

o
Duplication
CLONING METHODS
GENE EXPRESSION MODIFICATIONS
o
Cre-Lox System (Specific Gene developmental manipulation)
o
RNA Interference (dsRNA against mRNA)

4. GENETICS

GENETIC TERMS
o
Codominance
o
Variable Expressivity
o
Incomplete Penetrance
o
Pleiotropy
o
Anticipation
o
Loss of Heterozygosity
o
Dominant Negative Mutation
o
Linkage Desequilibrium
o
Mosaicism (Somatic Mosaicism - Gonadal Mosaicism) - McCune Albright
Syndrome
o
Locus Heterogeinity
o
Allelic Heterogeinity
o
Heteroplasmy
o
Uniparental Dysomi
HARDY WEINBERG POPULATION GENETICS
IMPRITING: Prader Willy Syndrome - Angelman Syndrome
MODES OF INHERITANCE
o
Autosomal Dominant
o
Autosomal Recessive
o
X Linked Recessive
o
X Linked Dominant: Hypophospatemics Rickets
o
Mitochondrial Inheritance: Mitochondrial Myopaties
AUTOSOMAL DOMINANT DISEASES
o
Achondroplasia
o
Autosomal Dominant Polycystic Kidney DIsease
o
Familiar Adenomatous Polyposis
o
Familiar Hipercholesterolemia
o
Hereditary Hemorraghic Telangiectasia
o
Hereditary Spherocytosis
o
Huntington Disease
o
Li-Fraumendi Syndrome
o
Marfan Syndrome
o
Multiple Endocrine Neoplasia - MEN
o
Neurofibromatosis Type 1
o
Neurofibromatosis Type 2
o
Tuberous Sclerosis
o
Von Hippel Lindau Disease
AUTOSOMAL RECCESIVE DISEASES
CYSTIC FIBROSIS
X LINKED RECCESIVE DISORDERS (Oblivious Female Will Often Give Her Boys Her xLinked Disorders)

MUSCULAR DYSTROPHIES

o
Ducchene
o
Becker
o
Myotonic Type 1
FRAGILE X SYNDROME
TRINUCLEOTIDE REPEAT EXPANSION DISEASES
AUTOSOMAL TRISOMIES
o
Down Syndrome - Trisomy 21
o
Edwars Syndrome - Trisomy 18
o
Patau Syndrome - Trisomy 13
GENETIC DISORDES BY CROMOSOME
ROBERTSONIAN TRASLOTACION
CRI-DU-CHAT SYNDROME
WILLIAMS SYNDROME
22Q11 DELETION SYNDROMES

5. NUTRICIN

VITAMINS - FAT SOLUBLE

VITAMINS - WATER SOLUBLE
VITAMIN A RETINOL
VITAMIN B1 THIAMINE
o
Wenike Korsakoff Syndrome
o
Dry Beriberi
o
Wet Beriberi
VITAMIN B2 RIVOFLAVIN
VITAMIN B3 NIACIN
o
Pelagra
o
Hartnup Disease
VITAMIN B5 PANTOTHENIC ACID
VITAMIN B6 PIRIDOXIN
VITAMIN B7 BIOTIN
VITAMIN B9 FOLATE
VITAMIN B12 COBALAMIN
VITAMIN C ASCORBIC ACID
o
Scurby
VITAMIN D
VITAMIN E - TOCHOPHEROL
VITAMIN K - PHYTOMENADIONA
ZINC
MANUTRICION
o
Kwasiorkor
o
Marasmus
ETANOL METABOLISM

6. METABOLISM

METABOLISM SITE (Mitochondria - Cytoplasm - Both)

ENZIME TERMINOLOGY
o
Kynase
o
Phosphorilase
o
Phospathase
o
Dehydrogenasa
o
Hydroxylase
o
Carboxylase
o
Mutase
RATE DETERMINING ENZYMES
o
Glycolysis
o
Gluconeogenesis
o
TCA Cycle
o
Glyconeogenesis
o
Glycogenolisis
o
HMP Shunt
o
De Novo Pyridime Syntesis
o
De Novo Purine Syntesis
o
Urea Cycle
o
Fatty Acids Syntesis
o
Fatty Acids Oxidation
o
Ketogenesis
o
Cholesterol Syntesis
SUMMARY OF PATHWAYS
ATP PRODUCCION
ACTIVATED CARRIERS
UNIVERSAL ELECTRON ACCEPTORS
HEXOKINASA VS GLUCOKINASA
GLYCOLISIS REGULATION KEY ENZIMES - Require ATP/Produce ATP
REGULARION BY GLUCOSA 2,6 BYPHOSPHATE
PYRUVATO DESHIDROGENASA COMPLEX
o
Pyruvaro Deshidrogenasa Complex Deficiency
PYRUVATE METABOLISM (Alanine - Oxalacetate - AcetilCoA - Lactato)
TCA CYCLE
OXIDATIVE PHOSPHORILATION
ATP PRUDUCED VIA ATP SYNTHASE
OXIDATIVE PHOSPHORILATION POISONS
o
ELECTRON TRANSPORT INHIBITORS (Rotenone - Antimycin - CO/CN)
o
ATP SYNTASE INHIBITORS (Oligomycin)
o
UNCOUPLIG AGENTS (2.4 Dinitropherol - AAS - Thermogenin)
GLUCONEOGENESIS IRREVERSIBLE ENZYMES
o
Pyruvate Carboxylasa
o
Phosphoenolpiruvate Carboxikynase

o
Fructuose 1,6 Biphosphatase
o
Glucosa 6 Phosphatase
HMP SHUNT (PENTOSA PHOSPHATE PATHWAY)

REACTIONS
o
Oxidate - Irreversible
o
Nonoxidate - Reversible
o
G6PDH Deficiency
DISORDERS OF FRUTOUSE METABOLISM
o
Essential Fructosuria
o
Frutuose Intolerance
DISORDERS OF GALACTOSE METABOLISM
o
Galactokinase Deficiency
o
Classic Galactosemia
SORBITOL
LACTASE DEFICIENCY
AMINOACIDS
o
Essential (Glucogenic -Glucogenic/Ketogenic - Ketogenic)
o
Acidic
o
Basic
UREA CYCLE
o
Transport of Ammonia by Alanine and Glutamate
o
Hyperammonemia
o
N Acetylglutamate Syntasa Deficiency
o
Ornithine Transcarbamylase Deficiency
AMINOACID DERIVATES
o
Phenylalanine
o
Trypthopan
o
Histidine
o
Glicine
o
Glutamate
o
Arginine
CATECHOLAMIN SYNTESIS/TYROSINE CATABOLISM (PHENYLALANINE)
o
Phenylketonuria
o
Maple Syrup Urine Disease
o
Alkaptonuria
o
Homocistinuria
o
Cystinuria
GLYCOGEN REGULATION BY INSULIN AND EPINEPHRIN
GLYCOGEN (SKELETAL MUSCLE AND HEPATIC)
GLYCOGEN STORAGE DISEASES
o
Von Gierke - Type I
o
Pompe Disease - Type II
o
Cori Disease - Type III
o
Mc Ardle Disease - Type IV
LYSOSOMAL STORAGE DISEASES
o
SPHINGOLIPIDOSES
o
Fabry Disease

o
Gaucher Disease
o
Niemann-Pick Disease
o
Tay-Sachs Diseases
o
Krabbe Disease
o
Metachromatic Leukodistrofy
o
MUCOPOLYSACCHARIDOSES
o
Hurler Syndrome
o
Fabry Syndrome
FATTY ACYD METABOLSIM - SYNTESIS/DREGADATION
o
Medium Chain Acil CoA Deshidrogenasa Deficiency
KETONE BODIES
METABOLSIM FUEL USE
o
FED STATE
o
FASTING STATE
o
STARVARION DAYS 1-3
o
STARVATION AFTER DAY 3
CHOLESTEROL SYNTESIS
LYPID TRANSPORT KEY ENZIMES
o
Pancreatic Lipase
o
Lipoprotein Lipase - LPL
o
Hepatic TG Lipase - HL
o
Hormone Sensitive Lipase
MAJOR APOLIPOPROTEINS (E-AI-CII-B48-B100)
LIPOPROTEINS FUNTIONS (CHYLOMICRON - VLDL - IDL - LDL - HDL)
FAMILIIAR DYSLIPIDEMIAS
o
I - Hyperchylomicronemia
o
IIA - Familiar Hypercholesterolemia
o
IV- Hipertrygliceridemia