Genetic Variant Potentially Linked to Parkinson’s Found

Researchers may have discovered a new avenue of research that could be used to develop novel courses of treatment for Parkinson’s disease. The study team found a genetic mutation that appears to be related to the late onset of the neurodegenerative condition.

The investigation, which was led by researchers at the University of British Columbia (UBC), in Canada, promises to provide fresh insight into this disorder, which is affecting more and more seniors.

The end result of studies conducted in this field is to either develop a way of treating the disorder completely, or at least halt its progress. Therapies in the latter scenario can be combined with early detection methods, to ensure that no serious damage comes to the brain.

Using a new investigative technology called exome sequencing, the researchers were able to discover that a mutation on the VPS35 gene is responsible for the correlation. The conclusions are detailed further in the latest issue of the American Journal of Human Genetics.

In order to conduct the study, the experts first studied members of a Swiss family, but then moved on to analyzing more people from areas around the world. The reason for this was to determine whether this mutation could be linked to the disease independent of geographic location.

“We applied this technology to DNA samples from two cousins diagnosed with Parkinson’s disease. They are part of a Swiss family where eleven people have developed the disease,” lead study author Carles Vilariño-Güell explains.

The expert is a member of the UBC Center for Molecular Medicine & Therapeutics (CMMT), and also holds an appointment as a postdoctoral research associated in the Department of Medical Genetics.

Together with colleague and senior study author Matthew Farrer, Vilariño-Güell conducted the analysis on patients from United States and Tunisia, among others. “This conclusively proves that this mutation is the cause of disease in these patients,” he explains.

“We found one previously unidentified mutation was present in all the individuals in this family who had developed Parkinson’s disease, but we did not see this mutation in any of the more than 3,000 healthy individuals whose DNA samples we studied,” the investigator goes on to say.

The Michael J. Fox Foundation, the Parkinson’s Disease Foundation, and the Canada Excellence Research Chairs program provided the money the team needed to conduct the new study.