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Genetic mutations linked to Parkinson's Disease

12 August 2013

Research led by Dr Helene Plun-Favreau (UCL Institute of Neurology) has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments.

In the new study, published in Nature Neuroscience, a team of researchers from UCL Institute of Neurology, the University of Cambridge and the University of Sheffield showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. Mitophagy is an essential process through which our bodies are able to get rid of damaged, and therefore potentially very harmful, mitochondria (‘energy powerhouses’ whose function is vital in nerve cells).

Over the last three years, two genes associated with familial Parkinson’s disease, PINK1 and Parkin, have been reported to play a role in mitophagy. This new study shows just how central the role of mitophagy is and how mutations in Fbxo7 are also linked with the disease and interfere with the PINK1-Parkin pathway.

In people with Parkinson’s, genetic mutations cause defects in mitophagy, leading to a build-up of dysfunctional mitochondria. This is likely to explain, at least partially, the death of brain cells in Parkinson’s patients with these mutations.

Dr Helene Plun-Favreau said: “These findings suggest that treatment strategies that target mitophagy might be developed to benefit patients with Parkinson's disease in the future.

Dr Plun-Favreau, who was recently awarded a grant from the National Institute for Health Research (NIHR) University College London Hospitals Biomedical Research Centre, said: “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.”

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Plun-Favreau et al The Parkinson’s disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy Nature Neuroscience. Available online 11th August 2013. doi:10.1038/nn.3489

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