The American Journal of Human Genetics, Volume 89, Issue 1, p162, 15 July 2011.
Carles Vilariño-Güell, Christian Wider, Owen A. Ross, Justus C. Dachsel et al. “VPS35 Mutations in Parkinson Disease.
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 in the American Journal of Human Genetics, was led by neuroscientists at the Mayo Clinic campus inFloridaand included collaborators from theU.S.,Canada,Europe,United Kingdom,Asiaand theMiddle East.
“This finding provides an exciting new direction for Parkinson’s disease research,” says co-author Zbigniew Wszolek, M.D., 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 mutations inVPS35, a protein responsible for recycling other proteins within cells, caused Parkinson’s disease in the Swiss family. MutatedVPS35 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 Owen Ross, Ph.D., a neuroscientist at Mayo Clinic inFlorida. “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, Carles Vilariño-Güell, Ph.D., and the senior investigator, Matthew Farrer, Ph.D., worked on this study while at Mayo Clinic in 2010; they have since moved to theUniversityofBritish ColumbiainVancouver. The joint first author, neurologist Christian Wilder, M.D., first identified the Swiss Parkinson’s disease family and continued to study them while he was a research fellow at Mayo Clinic; he has now returned to Centre Hospitalier Universitaire Vaudois inLausanne,Switzerland.
