Two papers published in the journal Nature Genetics on 25 July provide yet more insight into genes predisposing people to MND. Three new genes known as C21orf2, MOBP and SCFD1 have been linked to MND, and a fourth gene, NEK1, has been confirmed as an MND susceptibility gene. These genes join the growing list of already identified genes linked to MND.

In 1993 mutations were identified on the SOD1 gene on chromosome 21. These mutations are believed to be present in about 20% of people with familial MND. Since then, several other gene mutations have been discovered, including TARDBP (also known as TDP 43) and FUS. In 2011 the discovery of mutations in the C9ORF72 gene was announced and has since been found in about 40% of all families with familial MND.

This new research identifying C21orf2, MOBP, SCFD1 and NEK1, provides another piece to the complex puzzle of MND. Current research aims to identify further genes linked to MND and to understand how these mutations cause damage to motor neurones.

The findings are the result of a huge international effort involving hundreds of scientists and thousands of samples from people with MND. The work of the contributing groups was supported by various grants from governmental and charitable bodies, including the Motor Neurone Disease Research Institute of Australia.

More info:

1. Journal articles published 25 July 2016:

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis’ – Rheenan et al, Nature Genetics doi:10.1038/ng.3622, 25 July 2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis – Kenna et al, Nature Genetics doi:10.1038/ng.3626, 25 July 2016

2. MND Australia media release

New gene discoveries shed light on motor neurone disease

3. MND UK Commentary

New genetic discoveries tell us more about what causes MND – Part 1

New genetic discoveries tell us more about what causes MND – Part 2


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