Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone

What is it about?

This study delineates a novel severe hereditary late-onset severe progressive muscle disease due to a mutation in the gene encoding HMG CoA reductase, the target of statins. We synthesized and purified mevalonolactone, the product of HMG CoA reductase enzymatic activity that is lacking in those patients and was never administered to humans before. We demonstrate preliminary evidence of its safety and efficacy in dramatically reversing the otherwise lethal hereditary human disease, as well as the muscle side effects of statins.

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Photo by Christina Victoria Craft on Unsplash

Photo by Christina Victoria Craft on Unsplash

Why is it important?

Statins are the most widely prescribed medication for lowering blood cholesterol levels. Muscle pain and malfunction (myopathy) occur in 10-20% of patients, and is severe and does not effectively subside in ~1% following cessation of statin therapy. The mechanism of statin myopathy is under debate and treatment modalities are lacking. We delineate a novel lethal hereditary progressive muscle disease caused by a molecular mechanism similar to statin myopathy, generate and prove safety and efficacy of a novel medication, dramatically reversing the course of the human disease, and demonstrate in mouse experiments efficacy of this treatment also in statin myopathy.

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