Jewish American Heritage Month

Posted By richards on April 3, 2014

Its no secret that harmful mutations to the BRCA1 and BRCA2 genes, which increase a womans chances of getting breast cancer, are more common among those of Ashkenazic descent. Now researchers are investigating another gene mutation with links to Jews descending from Eastern Europe, this time related to Parkinsons disease.

A major international study currently is enrolling participants of Ashkenazic heritage and other risk factors, with local testing taking place at the University of California, San Diego (UCSD). Its focus: the LRRK2 gene, a certain mutation of which is much more common in Ashkenazic Jews and a target of interest in drug development.

Its all part of a landmark effort that the Michael J. Fox Foundation for Parkinsons Research began in 2010, called the Parkinsons Progression Markers Initiative (PPMI). The $60 million international program aims to identify biomarkers in individuals with Parkinsons, which has no cure and is characterized by tremors, impaired balance and rigidity. In the United States, about 60,000 Americans are diagnosed with the disease each year, according to the Parkinsons Disease Foundation.

Efforts to identify therapies and medications have been slow to come, and complicating matters is the fact that there are no biomarkers measurable substances, processes or characteristics of the body (think of the relationship between cholesterol and heart disease) which are critical in testing new therapies and treatments. Biomarkers give researchers a quick and more effective way to evaluate if a new therapy or drug is working.

With several promising Parkinsons drugs currently in the pre-clinical phase, our concern and rationale was that if a therapeutic doesnt work, we should know that because the therapy isnt accomplishing its goals. We dont want the outcomes to be unknown because we cant measure it, said Sohini Chowdhury, senior vice president of research partnerships for the Michael J. Fox Foundation.

The current method to gauge the effectiveness of Parkinsons treatments involves a physician measuring a persons motions over a specified amount of time, which Chowdhury called highly inaccurate.

You need a measure that gives you a sense of accuracy and confidence, she said.

The first wave of PPMI studied individuals with Parkinsons against a control group. That research ended in 2013, when the study expanded to groups with non-genetic risk factors, such as REM sleep disorders, and, more recently, to individuals with genetic risk factors, including LRRK2.

Changes in LRRK2 are believed to be responsible for 15 to 20 percent of Parkinsons disease cases in Ashkenazic Jews, a much greater percentage than in the general population according to the Michael J. Fox Foundation.

Dr. Douglas Galasko of the UCSD School of Medicine said he and his team are enrolling Ashkenazic Jews who have a family member with Parkinsons and who are willing to be tested to some degree. The more intensive testing involves spinal taps, brain imaging and more, and they hope to find 50 to 60 individuals worldwide to undergo that level of testing (two or three in Southern California).

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Is there a link between Parkinsons and Ashkenazi Jews?

Category: Ashkenazi
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