Huntington's Disease Essay

1003 words - 4 pages

Old essay, lots o' content, just needs a good proofread -HUNTINGTON'S DISEASEHuntington's disease, also known as Huntington's chorea is a geneticdisorder that usually shows up in someone in their thirties and forties,destroys the mind and body and leads to insanity and death within ten totwenty years. The disease works by degenerating the ganglia (a pair of nerveclusters deep in the brain that controls movement, thought, perception, andmemory) and cortex by using energy incorrectly. The brain will starve theneurons (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, andother such movement. This is known as chorea.Huntington's chorea is hereditary and is caused by a recently discoveredabnormal gene, IT15. IT stands for 'interesting transcript' because of thefact that researchers have no idea what the gene does in the body.Huntington's disease is an inherited mutation that produces extra copies ofa gene sequence (IT15) on the short arm of chromosome 4. A genetic base thatexists in triplicate, CAG for short, is effected by Huntington's disease. Innormal people, the gene has eleven to thirty-four of these, but, in a victimof Huntington's disease the gene exists from anywhere between thirty-five toone-hundred or more. The gene for the disease is dominant, giving childrenof victims of Huntington's disease a 50% chance of obtaining the disease.Several other symptoms of the disease exist other than chorea. High levelsof lactic acid have been detected in patients of Huntington's disease as abi-product of the brain cells working too hard. Also, up to six times abovethe normal level of an important brain brain protein, bFGF (or basicfibroblast growth factor) in areas of the brain effected by the chorea. Thisoccurs from the problems on chromosome 4, where the gene for control of bFGFis also located.As of yet, there is no treatment for Huntington's disease. But with thediscovery of the mutated genes that cause it, there is now a way ofdiagnosing if you will get it. This technique was discovered only recentlyand 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 agreat burdon is lifted off of your mind, or you show up positive, and knowhow and a little bit about when you will die, increasing the burdun verygreatly. 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 downit's devestating symtoms, Huntingtons disease up to now was a silent timebomb.13,000 people, the largest known concentration of sufferers fromHuntington's Disease, live in the Lake Maracaibo region of Venezuela. Theorigins of this gene...

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