Marking a breakthrough in the medical battle against Parkinson’s disease, scientists have stepped closer to understanding what happens to patients of this degenerative disease at the cellular level.
A research effort involving scientists at the University of Bristol, University of Texas Southwestern Medical Center and the Mayo Clinic has shown that a genetic change derails the transportation of proteins within cells. The scientists argue that starved of the proteins, the body loses the nerve cells responsible for producing dopamine, a neurotransmitter, which helps control and co-ordinate body movements.
It has been known that a mutation in the VPS35 gene is linked to Parkinson’s disease. But until now experts were unable to pinpoint its role. The results of the latest study show that this mutation mars the ability of the cell to ferry a sub-set of cargo proteins to their correct addresses.
The mutation affects three other proteins implicated in Parkinson’s disease as well, the researchers found.
Professor Peter Cullen, from the School of Biochemistry at the University of Bristol, said: “The discovery of the molecular defect associated with the VPS35 mutation offers a potentially exciting avenue of research into the causes of this disease. This research significantly adds to the growing body of evidence that the retromer complex, which VPS35 is a part of, is a potential therapeutic target when designing drugs to help combat this and other neurodegenerative diseases.”