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.
* Parkinson’s disease (PD) is a slowly progressive neurological condition that causes the degeneration of dopaminergic neurons (nerve cells) in the brain stem and leads to muscle rigidity. tremors and slowing down of movements. PD is often genetically determined.
* VPS35 stands for Vacuolar Sorting Protein 35.
* Exome sequencing: A method of analysing only the DNA that is actually coded for proteins or other functional products: that accounts for a mere 1.5% of the entire DNA.
Zimprich A. et al (2011). A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease, The American Journal of Human Genetics 89, 1–8
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The Institute for Human Genetics at the Helmholtz Zentrum München and the Technische Universität München is concerned with identifying genes associated with disease and characterising their functions. Their main aim is to find disease-related genetic variants in man and mouse as well as to develop chromosome analysis techniques and new methods for dealing with specific issues in the sphere of pre- and post-natal diagnostic and tumour cytogenetics.
Contact for media representatives
Sven Winkler,. Helmholtz Zentrum München – German Research Centre for Environmental Health (GmbH), Ingolstädter Landstrasse 1, 85764 Neuherberg . Tel.: +49 89-3187-3946 . Fax +49 89-3187-3324. E-Mail: firstname.lastname@example.org
Dr. Tim M Strom, Institute of Human Genetics, Helmholtz Zentrum München – German Research Centre for Health and the Environment (GmbH), Ingolstädter Landstrasse 1 85764 Neuherberg – Tel.: +49 89-3187-3296 – E-Mail: TimStrom@helmholtz-muenchen.de