www.whyville.net Jan 16, 2004 Weekly Issue

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Huntington's Disease

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This is a report I did on a genetic disease, since we're learning about genes in my science class. I got assigned Huntington's disease. I hope you like learning about it (and I hope I get an A).

Huntington's disease is a genetic disorder which causes deterioration of the brain. It's a somewhat common disease, affecting 250,000 Americans, male or female of any race. It slowly weakens the individual's ability to do normal things, such as talk, walk, think and reason. Huntington's disease is caused by a repeat of CAG bases on DNA located on chromosome number four.

Early symptoms of this disease include: depression, mood swings, clumsiness, forgetfulness and involuntary movements of the head, chest, and limbs. These particular symptoms will be present any time before the individual reaches middle age. As the disease progresses, when the individual is in middle age, the involuntary movements increase. Also, they don't have the ability to speak, walk, or swallow, and can't care for themselves anymore. They become totally dependent on others. There are juvenile cases of this disease, but these people don't live long enough to be an adult, because complications of the disease will kill them.

There is no cure for this disease, or any proven treatments. One treatment that is showing to be successful in some ways is botulinum toxin. It's supposed to relax certain muscles, specifically the ones that have spasms often. Botulinum toxin can be injected directly to the muscle that's going off involuntarily, and reduce the involuntary twisting of certain body parts. It can't be used on the individual's whole body, but it greatly reduces uncontrolled movements.

Another treatment that's being studied is cystamine. Scientists tested this chemical in lab mice with Huntington's disease, and have revealed that it increases mice life spans by 11%. However, though it allowed them to live, the chemical didn't relieve any of the mice's symptoms. The scientists tested the drug in mice in the earlier stage of the disease, and they found a rodent's lifetime was augmented by 19%, and the symptoms were lessened a great deal, even as the mouse entered the later part of the disorder.

Cystamine could be good in treating Huntington's disease because it was shown that after the mice were treated with it, there were more neuroprotective compounds in the brain. Neuroprotective compounds are naturally-occurring proteins that keep brain cells alive in conditions that would typically kill them. These compounds are also found in humans with Huntington's disease, except in greater quantity than the mice. The downside to treatment with cystamine is that it isn't designed for humans, probably because it's toxic to us. Scientists are already testing compounds related to cystamine on humans with Huntington's disease.



Genetic Testing for Huntington's Disease

Huntington's Disease Society of America

Allon Therapeutics



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