Researchers have discovered a new gene mutation they say causes Parkinson's disease. The mutation was identified in a large Swiss family with Parkinson's disease, using advanced DNA sequencing technology. The study, published July 15, 2011, in the American Journal of Human Genetics, was led by neuroscientists at the Mayo Clinic campus in Florida and included collaborators from the U.S., Canada, Europe, United Kingdom, Asia, and the Middle East. "This finding provides an exciting new direction for Parkinson's disease research," says co-author Dr. Zbigniew Wszolek, a Mayo Clinic neuroscientist. "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." The team found that mutation 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, says co-author Dr. Owen Ross, a neuroscientist at Mayo Clinic in Florida. "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," he says. 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. Dr. Wszolek has built a worldwide network of Parkinson's disease investigators, many of whom have conducted research at Mayo Clinic. The study's first author, Dr. Carles Vilariño-Güell, and the senior investigator, Dr.
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