Genetic mutations linked to Parkinson's Disease
12 August 2013
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Research led by Dr Helene Plun-Favreau (MyAV·¶ Institute of Neurology) has discovered how genetic mutations linked to Parkinsonâs 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 MyAV·¶ Institute of Neurology, the University of Cambridge and the University of Sheffield showed how defects in the Parkinsonâs 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 (âenergy powerhousesâ whose function is vital in nerve cells).
Over the last three years, two genes associated with familial Parkinsonâs 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 Parkinsonâs, 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 Parkinsonâs patients with these mutations.
Dr Helene Plun-Favreau said: âThese 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: âWhat makes the study so robust is the confirmation of defective mitophagy in a number of different Parkinsonâs models, including cells of patients who carry a mutation in the Fbxo7 gene.â
Read more:
Plun-Favreau et al Nature Neuroscience. Available online 11th August 2013. doi:10.1038/nn.3489
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