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Gene Behind Gaucher Disease a Player in Parkinson's
Date:10/21/2009

Finding from worldwide study could one day lead to new treatments

WEDNESDAY, Oct. 21 (HealthDay News) -- An unprecedented worldwide study has clinched the case that the gene behind Gaucher disease, a rare neurological disorder, is also involved in Parkinson's disease.

"For those of us who work with rare disorders, it is heartwarming to come up with insights that are applicable to more common disorders," said Dr. Ellen Sidransky, a senior investigator in the U.S. National Human Genome Research Institute, and leader of a study reported in the Oct. 22 issue of the New England Journal of Medicine.

Gaucher disease affects no more than one in 100,000 people in most populations, with an estimated 5,400 cases in the United States. As many as 3 million to 4 million Americans are estimated to have Parkinson's disease.

Gaucher disease develops in people who have two defective copies of a gene designated GBA. It codes for production of an enzyme that breaks down glucocerebrosidase, a fatty substance normally found in the body. The faulty gene allows accumulation of the substance, which can harm the spleen, liver, lungs, bone marrow and even the brain.

Discovery that the two conditions have a common genetic element cannot be applied immediately to relieve the stiffness, trembling and other symptoms of Parkinson's disease, Sidransky said.

"We have to be cautious about jumping into clinical applications," she said. "This gene plays a more common role in Parkinson's than other genes, but it is not necessarily predictive of Parkinson's disease. It is a risk factor rather than a gene that predicts the disease."

"The work will teach us about the mechanisms of Parkinson's disease, and once we understand the mechanisms we can come up with therapies that can help patients with Parkinson's disease. And it could ultimately lead to better therapies that could help patients with Gaucher disease," Sidrans
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