Huntingtons Disease

Cellular Genetics Essay

Oheo Walker 12/16/2013

Oheo Walker

Oheo Walker Randy Walters 16 December 2013 Cellular Genetics

Huntingtons Disease
Huntingtons disease is a genetic condition passed down from parent to child. If a parent has the condition their children will have a 50-50% chance of having HD later in life. Huntingtons disease affects the brain and causes severe symptoms later on in life. HD is something one must live with all their life. Its a serious illness to have. HD is an autosomal dominant condition, this means its on a non- sex chromosome (however it tends to affect the male population more then the female) and hide any recessive gene trying to block it out. The gene for Huntingtons disease is found on the fourth chromosome. The gene is made up of the nucleotide code CAG (cytosine, adenine, and guanine) repeated. This repeat is an example of trinucleotide repeat, this just means that the nucleotide base pair code repeats itself quite a few times. This is different than a single base pair repeat and sometimes can be more harmful. CAG can be repeated forty to over a hundred times, depending on how severe the case of Huntingtons disease is. Doctors are trying to figure out how this repeat causes such a problem with the brain. The brain is probably one of the most vital organs beside the heart. Huntingtons disease makes the brain slowly waste away, this is called neurodegeneration. The symptoms dont usually appear in a patient until their twentys but 10% of HD cases are juvenile. Huntingtons disease affects parts of

Oheo Walker

the brain that deal with cognitive thinking, motor skills or movment, and behavioral thinking. Each area gets weakened until the patient cant move, talk, and even sometimes think. Some people end up as just observers, they cant move or speak but they can watch and understand slightly. When Huntingtons disease starts working on the muscles it slows them down and weakens them. Patents sometimes experience clumsiness of legs or arms and seizures. The lips, tongue, throat, and jaw start to become uncoordinated and lax. Problems with swallowing can vary from not being able to swallow at all to not being able to feel the food at the back of the throat. Things like repeatedly swallowing, talking and swallowing and breathing at the same time, incomplete swallowing, and chewing difficulty can lead food and liquid falling down the air way rather than the esophagus. This can cause serious illnesses like aspiration pneumonia. Pneumonia is the leading cause of death among people with Huntingtons disease. Communication skills like reading, understanding, and even talking start to become difficult and confusing. Patients will start to stutter and repeat things. They will lose control of the speed they talk at, and sometimes they will only answer with one or two word phrases. Words and names become lost and the voice becomes breathy and hushed. Understanding new things is almost impossible and remembering old things becomes just as hard. The mind starts to fade as the disease continues on. As the mind wastes away so do things like long term and short term memory. Family members faces become the faces of strangers. The person starts to have bad judgment and reasoning, as well as poor attention span. People with HD tend to doze off a lot and usually dont know it is going on around them. Mathematics, reading, and writing are impossible to accomplish. Once someone starts to experience Huntingtons disease they are never the same again.

Oheo Walker

Unfortunately Huntingtons disease is incurable. Some medicine can maintain a few symptoms, but nothing can slow or stop HD. There is therapy treatment set up for patients with HD to have. They get scheduled as much as they request. Therapy helps the transformation up to a point. Its said to be beneficial with anger and depression problems in patients. This treatment is highly recommended for every person with Huntingtons disease. Therapy is also recommended for the families of people who have Huntingtons disease. Even though there is no cure geneticist are looking for a way to alter the Huntingtons disease gene in children of parents with HD so that it is never passed on or activated. Hopefully in the future some genetic diseases like Huntingtons disease, hemophilia, and cancer can be cured or removed from the human genome. To help people with Huntingtons disease words should be spoken clearly, slow, and loud. Gestures help as well with understanding and it grabs their attention. To help try and keep the patients informed keep big clocks and calendars around for them to look at easily. Keep a routine to help with memory and clarity. It also helps communication skills to label things and help them keep a log book. Theres no cure but anything can help just to make them feel better as well as the family as the adventure unravels.