Understanding mutations in FBXO7

CS001-Focused copyIn a new study, to be published in Nature Neuroscience, Helene Plun-Favreau and Alex Whitworth from the Neurodegeneration consortium, along with Heike Laman from Cambridge University, have established a role for Fbxo7, a gene associated with familial Parkinson’s disease (PD). Helene talks about the results from the paper below:

Mitochondria are the “energy powerhouses of the cells”. In no cell type is their function more vital than in brain cells, where long axons necessitate energy transport over large distances, and synaptic transmission requires a lot of energy to be generated by the mitochondria. Dysfunctional mitochondria, however, are potentially very toxic. As a result, cells have developed strategies to dispose of defective mitochondria by selective autophagy, a process called mitophagy.

Parkinson’s is one of the most common diseases of the brain. Most of what we know about the mitophagy process comes from the study of the genetic forms of PD. Over the last couple of years, two genes associated with familial PD, PINK1 and Parkin, have been reported to play a central role in mitophagy.

In this study, we discovered that mutations in Fbxo7 that cause Parkinson’s interfere with the PINK1-Parkin pathway, emphasizing the importance of mitophagy in the disease process that leads to brain cells dying in people with Parkinson’s. Using a combination of human cells with mutations in Fbxo7 and fruit flies engineered to have the dysfunctional version of the gene, we were able to discover that the mutations cause defects in mitophagy, resulting in accumulation of damaged mitochondria. This is likely to explain, at least partially, the death of brain cells in people with these mutations.

Read all about it at Nature Neuroscience:



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