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Parkinson's disease is caused by a 'genetic defect' claim scientists

Sunday August 11, 2013

Anna Edwards

Daily Mail (UK) - Parkinson's disease is caused by a genetic defect that produces poor 'housekeeping cells', claim scientists who believe they are closer to treating the debilitating condition.

Research has linked the disease to a genetic defect that stops cells clearing out defective mitochondria, tiny metabolic generators that supply energy.

Dysfunctional mitochondria are potentially very harmful.
Cells normally dispose of them through a 'hazardous waste' management system called mitophagy that causes the bean-like bodies to be digested and broken down.

Scientists have now discovered a biological pathway that allows mutations in a gene called FBxo7 to interfere with mitophagy.

In people with Parkinson's, this leads to a build-up of defective mitochondria that may result in the death of brain cells.

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

Dr Helene Plun-Favreau, one of the researchers from the University College London Institute of Neurology, 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 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.

'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,' he said.

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