Another Possible Parkinson’s Gene Identified

March 14, 2005

Researchers at the Rambam Medical Center said their study of 99 Ashkenazic Jews with Parkinson's disease found that 31 of them had mutations of the glucocerebrosidase (GBA) gene, which produces a protein that metabolizes fats.

That finding adds support to the theory that Parkinson's-a disease that affects one of every 100 people over age 60 and causes progressive loss of muscle control-results from faulty lipid metabolism, which slowly kills nerve cells.

The finding “holds a lot of promise for therapy,” said Dr. Mel B. Feany, an associate professor of pathology at Brigham and Women's Hospital in Boston. “If we understand that abnormal lipids contribute to the death of cells, there are a number of therapies that can alter the composition of lipids,” she said.

Feany lists nine other genes that have been implicated in Parkinson's disease. What has emerged from the genetic work is a “general model” of how genetic malfunctions work on the molecular level to cause nerve cell death in people with Parkinson's, she said.

Failure to metabolize lipids properly causes proteins in nerve cells to clump together abnormally in Parkinson's patients, the model says. Previously identified mutations cause protein clumping within nerve cells, while the one described by the Israeli researchers affects proteins in cell membranes, Feany said.

While scientists aren't sure why Parkinson's disease develops, they believe that genes are only part of the cause. Environmental factors also are believed to cause the disease. For example, exposure to pesticides is known to increase the risk for some people.

Parkinson's disease is a slowly progressive, neurodegenerative disorder caused by damaged or dead nerve cells in the region of the brain that controls balance and coordinates muscle movement. Eventually, the brain is no longer able to direct or control muscle movement in a normal manner. People with Parkinson's may have trouble walking, talking, or completing simple tasks that depend on coordinated muscle movements, according to United States health officials.

The research is definitely long-range work with lots to be done before any human trials are possible. However, each new discovery brings medical research one step closer to a potential cure for Parkinson's disease.

For further information, please contact Dr. Ruth Gershoni-Baruch at the Department of Medical Genetics, Rambam Medical Center, Haifa 31096, Israel; E-mail: [email protected]; Web site: www.rambam.org.il

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