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Aurora magazine

Discovered genetic variation due to motor neuron disease

A study reveals a new genetic variation due to motor neuron disease. The discovery comes from a group of researchers from the Sheffield Institute for Translational Neuroscience (SITraN) and the NIHR Sheffield Biomedical Research Center (BRC).

The work could help find new ways to treat the disease, which currently affects around 5,000 people in the UK alone. Motor neuron disease is a set of neurodegenerative diseases that affect only motor neurons. People who suffer from it have a bad connection between brain and muscle, caused by the malfunction of this type of neuron. About 10% of cases are hereditary, while the remaining 90% is linked to sporadic genetic variations.

The study in question identified an unknown variation, which opens up a series of possible new therapeutic avenues. The researchers sequenced the DNA of two related patients, both affected by a familiar form of motor neuron disease. The analyzes revealed a mutation linked to an enzyme called GLT8D1.

Later, they searched for variation in another 103 patients. Of these, 5 presented the mutation. The discovery revealed a new genetic subtype of motor neuron disease. Thanks to it, it will be easier to understand how the disease develops and to seek new therapies.