July 19, 2011 Scientists at the Helmholtz Zentrum München and the Technische Universität München working in cooperation with the Medical University of Vienna have identified a mutation associated with a inherited form of late-onset Parkinson's disease. The mutation occurs in a gene that plays a role in intracellular protein sorting.
The results have been published in the current issue of the American Journal of Human Genetics.
The team of scientists headed by Dr. Tim Matthias Strom from the Institute of Human Genetics at the Helmholtz Zentrum München and the Technische Universität München in cooperation with the Medical University of Vienna have identified a new inherited form of Parkinson's disease. The study was based on the genetic examination of an Austrian family with many affected family members. Using a new sequencing method, named exome sequencing*, a mutation in the VPS35 gene was identified in all family members diagnosed with the disease. VPS35 forms part of the retromer complex that mediates important tasks in the intracellular transport of proteins.
The same mutation was subsequently identified in two further families. A second study, conducted in Canada, has also described this mutation in four families. Prior to that, VPS35 had been linked with Alzheimer's disease. From their findings, the scientists have deduced that the intracellular mechanism with which the retromer controls protein sorting and recycling is a key factor in neurodegeneration.
"The discovery of new proteins involved in the origin of Parkinson's disease not only represents a step forward in our understanding of the origins of the disease but also provides us with potential starting points for developing new therapies," Strom explains. The aim of the Helmholtz Zentrum München is to comprehend the mechanisms that trigger widespread diseases and to deduce new approaches to their diagnosis, therapy and prevention.
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The above story is reprinted from materials provided by Helmholtz Zentrum Muenchen - German Research Centre for Environmental Health.
- Alexander Zimprich, Anna Benet-Pagès, Walter Struhal, Elisabeth Graf, Sebastian H. Eck, Marc N. Offman, Dietrich Haubenberger, Sabine Spielberger, Eva C. Schulte, Peter Lichtner, Shaila C. Rossle, Norman Klopp, Elisabeth Wolf, Klaus Seppi, Walter Pirker, Stefan Presslauer, Brit Mollenhauer, Regina Katzenschlager, Thomas Foki, Christoph Hotzy, Eva Reinthaler, Ashot Harutyunyan, Robert Kralovics, Annette Peters, Fritz Zimprich, Thomas Brücke, Werner Poewe, Eduard Auff, Claudia Trenkwalder, Burkhard Rost, Gerhard Ransmayr, Juliane Winkelmann, Thomas Meitinger, Tim M. Strom. A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease. American Journal of Human Genetics, 2011; 89 (1): 168-175 DOI: 10.1016/j.ajhg.2011.06.008
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