Huntington's Disease

Topics: Huntington's disease, Woody Guthrie, Genetics Pages: 3 (1110 words) Published: October 8, 1999
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...
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