Gene Mutation Linked to Parkinson's Disease

While more research is needed, finding could prove significant.

By Alan Mozes
HealthDay Reporter
Monday, September 17, 2007; 12:00 AM

Copyright © 2007 ScoutNews, LLC. All rights reserved.

MONDAY, Sept. 17 (HealthDay News) -- People who carry a certain gene mutation appear to have a greater risk for getting Parkinson's disease and for getting it at a relatively early age, new research suggests.

The study authors also found that because Ashkenazi Jews -- those with an Eastern European background-- are more likely to carry this gene mutation, this population may run an even higher risk for the disease. An estimated 90 percent of American Jews are of Ashkenazi lineage.

Study lead author Lorraine N. Clark, a researcher at Columbia University, described her team's findings as "unique and different."

"We specifically compared patients who had an early onset Parkinson's before age 50 with patients who had a later onset after age 50, and also with patients with and without Jewish ancestry," she said. "And we showed that mutations are twice as common among early onset Parkinson's and also that they're more frequent among patients with Jewish ancestry."

Clark serves as an assistant professor in the department of clinical pathology with the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, as well as the Center for Human Genetics, both at Columbia University.

The findings are published in the Sept. 18 issue of the journal Neurology.

Parkinson's disease is a brain disorder that affects 1.5 million Americans, according to National Parkinson Foundation estimates. Approximately 60,000 news cases occur each year, striking men and women equally, usually over the age of 65.

The disease is characterized by widespread damage to dopamine-producing nerve cells, impeding their ability to regulate body movement and muscle control. Key signs of the disease include tremors, stiffness, balance problems, and slowness of movement. Patients may also experience difficulty with speech and depression. There is no known cure.

To explore potential genetic underpinnings to the onset of Parkinson's, Clark and her colleagues decided to focus on the GBA gene. Mutations of this gene have already been identified as the cause of Gaucher disease, a rare fat-storage disorder that disrupts spleen and brain function.