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What is Huntington's Disease?
Mar 14, 2013 | 754 views | 0 0 comments | 8 8 recommendations | email to a friend | print
The molecules that glow blue in these cultured cells prevent the expression of the mutant proteins that cause Huntington’s disease. Courtesy photo
The molecules that glow blue in these cultured cells prevent the expression of the mutant proteins that cause Huntington’s disease. Courtesy photo
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BY REBECCA PALMER

Clipper Editor

BOUNTIFUL — Dr. George Huntington first described “hereditary chorea” in 1872, and the disease later came to be known by his name. Chorea, the Greek word for dance, describes the involuntary twisting, jerking and waving movements that are common in early stages of the disease.

It affects about 3 people in every 10,000, and has been found in people of all races and genders.

The disease is neurodegenerative and, like Parkinson’s Disease, eventually affects all muscles. Strange movements are an early symptom, but problems with cognition and psychological well-being are also part of the disease.

“All the things that a person can do, they literally get to a point where they can not do anything,” explained Becky Bosch Blain, whose mother died of the disease. “They can’t reason, they can’t speak. They have to be taken care of 100 percent.”

Huntington’s is a genetic disease inherited from parents to children, and if a parent has it, the risk of inheriting it is 50 percent. It is always fatal and no cure has been found, but patients usually live between 10 and 25 years after symptoms first appear. If a parent does not have the gene, the risk is zero.

The mutated gene that causes the disease was identified in 1993. It is part of the HTT gene, which provides instructions for making the huntingtin protein. All living things have the HTT gene, but in Huntington’s patients, one of the DNA-building segments gets repeated too many times. The more times it repeats, the earlier the onset of symptoms.

Scientists have created this mutated repeating pattern in the DNA of mice and have been able to stop symptoms in the animals, but the results cannot be applied directly to humans. Scientists are also studying ways to use stem cells and RNA interference to fight the disease. In the meantime, drugs are available that help control the chorea and mitigate the psychological symptoms, but none have been found to slow the progression of the disease.

“Once it’s in your family, you’re all consumed with it,” Blain said. “You don’t ever get away from it.”

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