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Huntingtons Disease Essay

994 words - 4 pages

Huntington's Disease

Huntington's disease, also known as Huntington's chorea is a genetic disorder
that usually shows up in someone in their thirties and forties, destroys the
mind and body and leads to insanity and death within ten to twenty years. The
disease works by degenerating the ganglia (a pair of nerve clusters deep in the
brain that controls movement, thought, perception, and memory) and cortex by
using energy incorrectly. The brain will starve the neurons (brain cells), and
sometimes make them work harder than usual, causing extreme mental stress. The
result is jerky, random, uncontrollable, rapid movement such as grimacing of the
face, flailing of arms and legs, and other such movement. This is known as
chorea.

Huntington's chorea is hereditary and is caused by a recently discovered
abnormal gene, IT15. IT stands for "interesting transcript" because of the fact
that researchers have no idea what the gene does in the body. Huntington's
disease is an inherited mutation that produces extra copies of a gene sequence
(IT15) on the short arm of chromosome 4. A genetic base that exists in
triplicate, CAG for short, is effected by Huntington's disease. In normal people,
the gene has eleven to thirty-four of these, but, in a victim of Huntington's
disease the gene exists from anywhere between thirty-five to one-hundred or more.
The gene for the disease is dominant, giving children of victims of Huntington's
disease a 50% chance of obtaining the disease.

Several other symptoms of the disease exist other than chorea. High levels of
lactic acid have been detected in patients of Huntington's disease as a bi-
product of the brain cells working too hard. Also, up to six times above the
normal level of an important brain brain protein, bFGF (or basic fibroblast
growth factor) in areas of the brain effected by the chorea. This occurs from
the problems on chromosome 4, where the gene for control of bFGF is also located.

As of yet, there is no treatment for Huntington's disease. But with the
discovery of the mutated genes that cause it, there is now a way of diagnosing
if you will get it. This technique was discovered only recently and reported in
the Journal of American Medical Association in April, 1993. Something that many
people do not want to know. Because it can go two ways. Either you are extremely
relieved because the test shows up negative, and a great burdon is lifted off of
your mind, or you show up positive, and know how and a little bit about when you
will die, increasing the burdun very greatly. And living the rest of your life
in depression.

Some 30,000 Americans are currently suffering for this genetic disorder. Named
in 1872 for George Huntington the New York Doctor who first wrote down it's
devestating symtoms, Huntingtons disease up to now was a silent time bomb.

13,000 people, the largest known concentration of sufferers from Huntington's
Disease, live in the Lake Maracaibo region of Venezuela. The origins of this...

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