RESEARCH LINKS THE DISEASE WITH A GENETIC DEFECT

… Scientists believe they are closer to treating debilitating Parkinson’s disease.

Parkinson’s disease is caused by a genetic defect that produces poor ‘housekeeping cells’, but scientists now believe they are closer to treating the debilitating condition.

Scientists have linked the disease to a genetic malfunction that prevents cells from clearing out defective mitochondria, metabolic generators within the body’s cells that supply energy. Dysfunctional mitochondria are potentially very harmful.

Normally, cells dispose of them through a ‘hazardous waste’ management system known as mitophagy. This causes bean-like bodies to be digested and broken down.

But researchers have now discovered and identified a biological pathway that allows mutations in a gene – called FBxo7 – to interfere with mitophagy.

For Parkinson’s sufferers, this leads to a build-up of defective mitochondria that may result in the death of brain cells.

The study, first published in the journal Nature Neuroscience, indicates that mitophagy might be the key to new treatment options for the disease.

Dr Helene Plun-Favreau is one of the researchers based at the Institute of Neurology at the University of London. She said:

… These findings suggest that treatment strategies that target mitophagy might be developed to benefit patients with Parkinson’s disease in the future.

… What makes the study so robust is the confirmation of defective mitophagy in a number of different Parkinson’s models, including cells of patients who carry a mutation in the Fbxo7 gene.

Co-author of the study, Dr Heike Laman, from Cambridge University, said:

… This research focuses the attention of the Parkinson’s disease community on the importance of the proper maintenance of mitochondria for the health of neurons.

… We are really only at the very beginning of this work, but perhaps we can use this information to enable earlier diagnosis for Parkinson’s disease patients or design therapies aimed at supporting mitochondrial health.

Professor Hugh Perry, chair of the neurosciences and mental health board at the Medical Research Council which part-funded the study, said the work raised ‘interesting questions’ about brain cell death related to Parkinson’s. He said:

… The more we understand about the basic molecular events which contribute to the onset and progression of Parkinson’s disease, the better placed we will be to develop treatments to stop it in its tracks.