New gene variation which causes motor neurone disease discovered in novel biological pathway

Medical Xpress | February 26, 2019

Scientists have discovered a new gene variation that causes motor neuron disease (MND) in a novel biological pathway that until now hasn't been linked with neurodegeneration. The findings for the pioneering study, conducted by the team of researchers from the Sheffield Institute for Translational Neuroscience (SITraN) and the NIHR Sheffield Biomedical Research Centre (BRC), could potentially help to identify completely new ways of treating MND which currently affects over 5,000 people in the UK. MND, also known as amyotrophic lateral sclerosis (ALS), is a devastating neurogenerative disorder that affects the nerves—motor neurones—that form the connection between the brain and the muscles. The messages from these nerves gradually stop reaching the muscles, causing them to weaken, stiffen and eventually waste. The progressive disease affects a persons' ability to walk, talk, eat and breathe.

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