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Researchers have discovered a gene mutation for Parkinson's disease, a finding that could open up new avenues of research for preventing or delaying the onset of the disease, according to a study in the October 22 on-line issue of the journal Neuron.
"This finding provides scientists with important new information about genetic mutations that underlie this disease, giving us new understanding about molecular mechanisms,” said Elias A. Zerhouni, MD, director of the National Institutes of Health (NIH). “Ultimately, this research will help in the development of targeted interventions that could actually alter the course of this disabling disease."
The gene, known as PARK8, encodes a protein named dardarin that was isolated on chromosome 12 by researchers who studied five families with a history of Parkinson's disease in the Basque region of Spain and in England.
First, the group identified a small region of the chromosome 12 shared by all of the Basque families and then systematically assessed each gene in this region for mutations that might cause disease. The investigators identified two mutations in the same gene, one associated with Parkinson's disease in the Basque families and the other which was linked to the disease in the English family.
"The discovery of this cluster of Basque families with Parkinson's disease helped us to narrow the genetic region we were interested in," said researcher Andrew Singleton, Ph.D., of the NIH’s National Institute of Aging.
Worldwide, the researchers have identified another 8 to 11 families suspected of having similar mutations, including at least one in the United States.
Singleton said other mutations likely exist in the Parkinson's disease population, noting that the new data suggest that there will be mutations in typical sporadic Parkinson's disease cases in addition to those who have a family history of the disease.
Source: Medical Week staff, week of October 23, 2004
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