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New link between Parkinson's disease and cellular sorting

Drawing of a patient with Parkinson's disease by neurologist Sir William Richard Gowers (1886)

15.07.2011, News

Scientists at the Helmholtz Zentrum Muenchen and the Technische Universitaet Muenchen 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 Technische Universitaet Muenchen and Helmholtz Zentrum Muenchen in cooperation with Medical University of Vienna have identified a new inherited form of Parkinson's disease. Parkinson's disease (PD) is a slowly progressive neurological condition that causes the degeneration of certain nerve cells (dopaminergic neurons) in the brain stem and leads to muscle rigidity, tremors and slowing down of movements. PD is often genetically determined.

The new study from Munich was based on the genetic examination of an Austrian family with many affected family members. The researchers identified a mutation in a gene called VPS35 (Vacuolar Sorting Protein 35) 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 VPS35-mutation was identified using a new sequencing method named exome sequencing. This is 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

Kontakt: presse@tum.de

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