Motor neurone disease mutations

12 June 2013
Posted by Kat Arney.

US researchers have discovered a number of new gene faults linked to spontaneous, non-inherited cases of a particular type of motor neuron disease known as amyotrophic lateral sclerosis, ALS, or Lou Gehrig's disease, an incurable disease where the nerves responsible for movement and breathing stop working. Although some of the gene faults responsible for hereditary ALS are known about, more than nine in ten cases happen in people with no family history, and there's no way of telling who might be at risk.

Publishing in the journal Nature Neuroscience, the scientists compared DNA from 47 patients with spontaneous, or sporadic, ALS with DNA from their parents who were unaffected. They were looking for new gene faults that had arisen within the patient that weren't present in either parent. They discovered 25 new gene faults that had arisen in the patients, including five faults in genes involved in packing DNA up within the cell to form a structure called chromatin, providing new insights into what might be causing the disease.

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