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Genetic muscle-wasting disease follows different patterns depending on severity

August 3, 2016



The number one genetic cause of death in infants is Spinal Muscular Atrophy, a condition that causes debilitating and often fatal muscle weakness. In a study published in Scientific Reports, Dr. Rashmi Kothary and his team found that the muscle degradation process in animal models of SMA varies depending on how severe the disease is. This suggests that different types of SMA may need different kinds of treatment. The team also found that a compound called trichostatin A (TSA) could reverse all molecular changes associated with muscle atrophy in animal models. While this compound is not suitable for use in humans, further research will study the mechanisms of how TSA is reversing muscle atrophy, which could pave the way for new treatments for SMA.

Co-authors: Marc-Olivier Deguise, Justin G. Boyer, Emily R. McFall, Armin Yazdani, Yves De Repentigny & Rashmi Kothary

Funders: Families of SMA Canada, Muscular Dystrophy Association (U.S.A), Canadian Institutes of Health Research.

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