"Like the discovery of the BRCA1 and BRCA2 gene mutations for breast cancer, this finding will directly affect the way Parkinson's disease is diagnosed in Ashkenazi Jews," says Dr. Susan B. Bressman, senior investigator of the report, who also is Chairperson of Neurology at Beth Israel, as well as Professor and Vice Chair of Neurology at Einstein. "It also emphasizes the benefit of focusing genetic studies in a specific ethnic group, even with regard to a disease not thought to be primarily genetic in origin,"
"Up until now, genetic counseling for Parkinson's disease hasn't really been considered," adds study co-author Dr. Laurie J. Ozelius, Associate Professor of Molecular Genetics at Einstein. "Our finding should bring genetic counseling for Parkinson's disease to the forefront along with genetic testing for early detection of Parkinson's disease."
The researchers focused on a gene called LRRK2, which is mutated in about 1% of late-onset non-familial cases of Parkinson's disease in those patients who are primarily of European ancestry.
Their study involved 120 unrelated Ashkenazi Jewish Parkinson's disease patients who had been seen as outpatients at Beth Israel's neurology department and screened for the gene. For comparison, a control group of 317 Ashenazi Jews who did not have Parkinson's disease was also studied. DNA was extracted from white blood cells or cheek cells of all the study participants and analyzed for mutations.
The G2019S mutation--the most common of several possible LRRK2 mutations--was detected in 18.3 percent (22 out of 120) of the Ashkenaz
Contact: Karen Gardner
Albert Einstein College of Medicine