Genetic Mutation May Lead to Test for Parkinson's

A recently discovered gene that is probably the most common genetic cause of Parkinson's disease, according to two new studies, could lead to the development of a genetic test to detect the mutation in people at risk.

Investigators found that a mutation in the gene LRRK2 appears to occur in at least one of every 60 people who have the disease. Overall, the mutation could be responsible for up to 5% of Parkinson's disease in people with a family history of the disorder, and may account for 1½ -2% of cases in people who do not have a family history of the disease. The researchers found a mutation in one copy of the gene can lead to the disease. These findings were reported in the January 17, 2005, online issue of The Lancet.

"Knowing that this mutation is not only important in familial forms of disease but in typical sporadic disease, where there is no strong family history, could lead to earlier detection of Parkinson's disease,” explained Andrew Singleton, Ph.D., chief of the molecular genetics unit in the Laboratory of Neurogenetics of the U.S. National Institute of Aging (NIA, Bethesda, MD, USA). "Further study of how this gene works also might help scientists identify new treatments.”

LRRK2 was discovered by Dr. Singleton and colleagues. The gene encodes a protein named dardarin from the Basque work dardara, which means tremor, a major symptom of Parkinson's disease. The gene was isolated on a region of chromosome 12 called PARK8 by investigators who studied five families with a history of Parkinson's disease who lived in the Basque region of Spain or in England.




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National Institute of Aging