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The Divastatin Hereditary Huntington's Disease Essay

1625 words - 7 pages

Huntington's Disease is “a devastating, hereditary, degenerative brain disorder for which there is, at present, no cure... HD slowly diminishes the affected individual's ability to walk, talk and reason. Eventually, the person with HD becomes totally dependent upon others for his or her care” (What is Huntington’s Disease). The “penetrance of the gene [is] close to 100% by old age but is low during the years of reproductive life” (Prediction and Prevention). This disease causes problems in mobility and cognitive ability as well as a few psychiatric disorders.
The first symptoms expressed can be cognitive, mobility, or psychiatric. Many of those affected will experience short-term memory problems. The will often have problems balancing and an unsteady walk. Falling will become more common. They may also experience chorea or involuntary movements as well as dystonia or sustained muscle contractions. Some will have difficulty swallowing. The mental health of people with Huntington’s is also a concern. Many will suffer from depression, OCD, or bipolar disorder. Some may even experience violent outbursts. The age of onset of Huntington’s Disease is usually 30-50 years old; however, juvenile forms are possible, as are later onset. “Individuals with this form of Huntington disease generally survive about 15 to 25 years after onset” (Huntington’s Disease Statistics). Juvenile forms will rarely live into adulthood. Most people do not die from the disease itself, but from additional medical problems like pneumonia and other infections, injuries from falls, and complications due to inability to swallow. As the disease persists, the person will become increasingly dependent on other people for daily care and may become unable to leave their bed.
Huntington’s Disease is caused by the repetition of a CAG sequence, referred to as an Expanded CAG Sequence, on the first exon on the TI15 gene located on Chromosome 4. An article called Huntington’s Disease Genetics by Richard H. Myers explains that “HD is a “trinucleotide repeat” disorder, which is caused by an increase in the number of CAG repeats in the HD gene. Repeats of 40 or larger are associated with disease expression, whereas repeats of 26 and smaller are normal. Intermediate numbers of repeats, between 27 and 35, are not associated with disease expression but may expand in paternal transmission, resulting in the disease in descendents. Repeats of 36–39 are associated with reduced penetrance whereby some develop HD and others do not.” This disease is usually passed on from parent to offspring, but about 1-3% of people suffering from Huntington’s had no family history of the disease and were the result of a sporadic mutation of the TI15 gene. “It follows a typical autosomal dominant pattern,” so only one copy of the defective gene is required for the trait to be expressed (Prediction and Prevention). Most couples, if they discover they both have the Huntington’s gene will decide not to have children...

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