Genetic mutations linked to Parkinson's identified

ScientistResearchers showed how defects in Parkinson's gene Fbxo7 cause problems with 'mitaphagy'. (Reuters)

Scientists have identified genetic mutations linked to Parkinson's disease that play a key role in the death of brain cells.

Researchers from University College London, the University of Cambridge and the University of Sheffield showed how defects in the Parkinson's gene Fbxo7 cause problems with 'mitaphagy' - an essential process through which our bodies are able to get rid of damaged cells.

Mitochondria are the 'energy powerhouses' of cells. Their function is vital in nerve cells which require a great deal of energy in order to function and survive.

Dysfunctional mitochondria are potentially very harmful and, normally, cells dispose of the damaged mitchondria by self-eating them, a process called mitophagy.

Previously, two genes associated with familial Parkinson's disease, PINK1 and Parkin, have been reported to play a role in mitophagy.

The 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.

"These findings suggest that treatment strategies that target mitophagy might be developed to benefit patients with Parkinson's disease in the future," said one of the lead authors, Dr Helene Plun-Favreau from the UCL Institute of Neurology.

The study was published in journal Nature Neuroscience.

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