Weakness is more prominent in males in a new mild mouse model of spinal muscular atrophy

What is it about?

This manuscript presents the production of a new mild mouse model of SMA. So far, a mild mouse model of SMA that covers the milder SMA type III and Type IV patients have been grossly lacking due the difficulty in modulating the levels of SMN that produces clinical signs of SMA. This model has a normal lifespan, shows key clinical findings of SMA, but preferential severity towards the male sex. To note, there was no non-neuronal defects identified.

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Why is it important?

The SMA field has been drastically evolving with the introduction of new therapeutics that will be changing the natural history of SMA as we know it. Patients will be living longer and translating into milder forms of SMA. Unfortunately, prior to this study, there were no adequate mild models of SMA to better comprehend the pathogenesis of Type III and IV. This mouse model will provide insight into milder form of SMA, test long experimental paradigms over a lifetime (diet, exercise, others), the introduction of therapeutics and timing in already established diseased individuals. It will also help discern any new pathology that may arise with time.