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Mayo researchers: Genetic mutation linked to Parkinson's disease
Date:7/15/2011

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 Vilario-Gell, 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 the University of British Columbia in Vancouver. 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 in Lausanne, Switzerland.

Investigators used a new genetic sequencing technique to find the VPS35 mutation, according to Dr. Ross. They used 'exome' sequencing to look for shared variations in a pair of first cousins within a large Swiss family affected by Parkinson's disease. Collectively, exons, which provide the genetic blueprint used in the production of proteins, make up only 1 percent of the entire genome and so it is much easier to look for novel variations, causing changes in the protein sequence, that would represent possible disease-causing mutations, he says. "Cousins only share about 10 percent of their genome, whereas parents and children or siblings share much more. This narrowed the field of novel variations for us," says Dr. Wszolek, with VPS35 emerging as the latest Parkinson's disease gene.

"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."


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Contact: Kevin Punsky
punsky.kevin@mayo.edu
904-953-2299
Mayo Clinic
Source:Eurekalert

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