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Carphology by A Fo Ben

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TBK1 in Motor Neurone Disease

Exome sequencing of 2,874 people with motor neurone disease (MND) identified a new gene, TBK1 as important in its pathogenesis. This gene interacts with proteins involved in innate immunity and autophagy, including optineurin and p62, which are putative motor neurone disease genes. Demonstrating just how enriched familial samples are, 252 familial MND cases also, independently, identified TBK1. There were mutations in this gene in 13 families who also had fronto-temporal dementia. These experiments suggest that autophagic pathways are important in the development of motor neurone disease, which in turn, could lead to new treatment opportunities.

Science 2015;347:1436–41 Nat Neurosci 2015;18:631–6

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    Phil Smith Geraint N Fuller