Study links genetic mutation with Parkinson's disease

A new gene mutation may play a role in the development of Parkinson's disease, a team of international researchers have found. Using advanced DNA sequencing technology, the researchers identified the mutation in a large Swiss family with Parkinson's disease. Study findings were published in the July issue of in the American Journal of Human Genetics. The study was a collaborative work by researchers from the U.S., Canada, Europe, United Kingdom, Asia and the Middle East. The team found that mutations in VPS35, a protein responsible for recycling other proteins within cells, caused Parkinson's disease in the Swiss family. Mutated VPS35 may impair the ability of a cell to recycle proteins as needed, which could lead to the kind of errant buildup of protein seen in some Parkinson's disease brains and in other diseases like Alzheimer's disease, the researchers say. "In fact, expression of this gene has been shown to be reduced in Alzheimer's disease, and faulty recycling of proteins within cells has been linked to other neurodegenerative diseases," says study co-author Owen Ross, Ph.D., a neuroscientist at Mayo Clinic in Florida. "This finding provides an exciting new direction for Parkinson' s disease research," says co-author Zbigniew Wszolek, M.D., a neuroscientist at the Mayo Clinic. "Every new gene we discover for Parkinson's disease opens up new ways to understand this complex disease, as well as potential ways of clinically managing it." "There is much more we need to know about this gene," Dr. Ross says. "Although it appears to be a rare cause of Parkinson's disease, it seems to be very important from a mechanistic viewpoint for this disease and possibly other neurodegenerative disorders." So far, mutations in six genes have been linked to familial forms of Parkinson's disease, with many mutations identified as a direct result of Mayo Clinic's collaborative research efforts.