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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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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This page is a summary of: Limb girdle muscular disease caused by
mutation and statin myopathy treatable with mevalonolactone, Proceedings of the National Academy of Sciences, February 2023, Proceedings of the National Academy of Sciences, DOI: 10.1073/pnas.2217831120.
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