Researchers gain insight into Huntington's

WASHINGTON (CNN) -- Researchers have gained the first insights into why Huntington's disease, a devastating degenerative disorder, develops, according to scientists at Johns Hopkins University.

The rare neurodegenerative disease is genetic, striking about one in 10,000 with twitching movements that progress to loss of coordination followed by loss of memory and then loss of movement. It generally strikes adults between the ages of 30 and 45 and is always fatal after about 15 years.

Scientists discovered the gene for Huntington's disease in 1993, but they never knew how the gene causes a patch of nerve cells in the brain to die, thus causing the disease.

"We know the disease is at the protein level, the gene makes an abnormal protein," said Dr. Christopher Ross, the lead researcher of a paper being published in Science magazine. "What we learned is this abnormal protein gums up signals within brain cells. Signals these cells need to survive."

When cells don't receive those signals, they die. That is what happens to the important nerve cells in the brain.

The discovery has several implications.

First, it will help researchers understand what is causing other, less common neurodegenerative genetic disorders. It could also be relevant to people working with Parkinson's and Alzheimer's diseases, which may be caused by a similar mechanism. And, most important, it will give researchers a target to aim at in the effort to develop a drug effective against Huntington's.

Ross said several steps remain before development of a drug, including verifying the mechanism in animals and finding compounds that block the process.

Huntington's Disease Society of America
Huntington's Disease Advocacy Center
Hereditary Disease Foundation Home Page
NINDS Huntington's Disease Information Page
The Johns Hopkins University

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