Parkinson’s disease - LRRK2 Gene mutation Identified

January 26th, 2006

Middle East

A group of researchers from Albert Einstein College of Medicine of Yeshiva University and Manhattan hospital, Beth Israel Medical Center have isolated a gene mutation which is a major cause of Parkinson’s disease which among Ashkenazi Jewish patients.

The report will be published in today’s issue of The New England Journal of Medicine. Researchers of this study believe that this will be the first time that a genetic test can help determine the risk for developing Parkinson’s disease. Before this there was no genetic test to help to determine the risk.

"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 researcher and is a Chairperson of Neurology at Beth Israel, and a 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."

Researchers took DNA blood samples of 120 unrelated Ashkenazi Jewish Parkinson’s disease patients. The mutated gene called LRRK2 was found. As a control group the researchers took 317 Ashkenazi Jews that did not have Parkinson’s disease and studied their DNA to see if there were any mutations that were similar.

There were several possible LRRK2 gene mutations. The most commonly found was the G2019S mutation. They found this mutation in 22 out of 120 of the Parkinson’s patients compared to 4 out of 317 in the control group that did not have the disease.

The researchers reported that Ashkenazi Parkinson’s patients had a 15 to 20 times higher chance of the mutation showing up compared to general European descendents. They also say that another group that has a high occurrence for this gene to show up as mutated is in North Africans and those of Arab descent. The researchers suggest that the genetic mutation could come from Middle Eastern ethnic origins.