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New motor neurone disease gene

Wednesday February 27th, 2019

The discovery of a new genetic subtype of motor neurone disease could lead to treatments for some patients, British scientists have reported.

Dr Johnathan Cooper-Knock and his team at Sheffield University genetically sequenced patient samples to try to identify causes for the 90% of motor neurone disease cases which are not inherited.

In Cell Reports yesterday (26 February), they describe their study of samples from two patients with an unknown familial form of motor neurone disease. This highlighted a mutation in part of an enzyme called GLT8D1.

Next, the team screened samples from 103 patients, and found that five had this mutation, leading the team to believe that had revealed a new genetic subtype of motor neurone disease.

This novel biological pathway had not previously been linked with neurodegeneration.

"This new gene does not fit into a biological function that we already know is associated with motor neurone disease, " said Dr Cooper-Knock. "That means that this finding has potential to identify completely new ways of treating motor neurone disease.

"The mutations found in patients were shown to be toxic to neurons and, when expressed in zebrafish they produced muscle weakness consistent with motor neurone disease. This work strongly suggests that the mutations are the cause of motor neurone disease in the patients where they were identified."

Co-author Professor Dame Pamela Shaw added: "Genetic screening of motor neurone disease patients is becoming increasingly important as we subclassify the disease and look for new therapeutic strategies.

"What we need is are more powerful therapies that protect motor neurons from injury and substantially slow down the progression of motor neurone disease.

“Fundamental science breakthroughs, such as this discovery, are vitally important in helping us to understand the mechanisms of disease, paving the way to find potential new therapies."

Cooper-Knock, J. et al. Cell Reports 26 February 2019

Tags: Brain & Neurology | Genetics | UK News

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