Research helps unravel complex genetics of Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is a neuromuscular disease caused by mutations or deletions in the SMN1 gene. However, some people with the exact same mutations suffer much more severe symptoms than others. New research led by Dr. Rashmi Kothary’s group, published in Human Molecular Genetics, supports the theory that other genes also play an important role in this disease. The team compared SMA animal models from two different genetic backgrounds, and found animals from one background lived longer, lost weight at a slower rate, and developed muscle weakness and muscle nerve loss in the spinal cord at a later age. The difference seems to be linked to a gene called Pls3, but other genes likely play a role well. Identifying these could provide new targets for drug development.

Authors: Mehdi Eshraghi, Emily McFall, Sabrina Gibeault, Rashmi Kothary

Funders:Cure SMA/Families of SMA Canada, Muscular Dystrophy Association, Canadian Institutes of Health Research

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