Structural basis for simvastatin-induced skeletal muscle weakness associated with type 1 ryanodine receptor T4709M mutation
Statins lower cholesterol, reducing the risk of heart disease, and are among the most frequently prescribed drugs. Approximately 10% of individuals develop statin-associated muscle symptoms (SAMS; myalgias, rhabdomyolysis, and muscle weakness), often rendering them statin intolerant. The mechanism underlying SAMS remains poorly understood. Patients with mutations in the skeletal muscle ryanodine receptor 1 (RyR1)/calcium release channel can be particularly intolerant of statins. High-resolution structures revealed simvastatin binding sites in the pore region of RyR1. Simvastatin stabilized the open conformation of the pore and activated the RyR1 channel. In a mouse expressing a mutant RyR1-T4709M found in a patient with profound statin intolerance, simvastatin caused muscle weakness associated with leaky RyR1 channels. Cotreatment with a Rycal drug that stabilizes the channel closed state prevented simvastatin-induced muscle weakness. Thus, statin binding to RyR1 can cause SAMS, and patients with RyR1 mutations may represent a high-risk group for statin intolerance.
Authors
- Qi Yuan (ORCID: https://orcid.org/0000-0002-9837-8495)
- Marco Miotto (ORCID: https://orcid.org/0000-0001-8851-4863)
- Andrew R. Marks (ORCID: https://orcid.org/0000-0002-4316-5775)
- Steven Reiken
- Jennifer Leigh (ORCID: https://orcid.org/0000-0002-7431-3574)
- Linda Groom (ORCID: https://orcid.org/0000-0003-4856-7295)
- Gunnar Weninger (ORCID: https://orcid.org/0009-0009-1836-4316)
- Anetta Wronska (ORCID: https://orcid.org/0000-0003-2288-2596)
- Jiayi Kang (ORCID: https://orcid.org/0000-0001-7784-6432)
- Estefanía Luna-Figueroa
- Nan Zhao (ORCID: https://orcid.org/0000-0002-4597-6547)
- Haikel Dridi (ORCID: https://orcid.org/0000-0001-9533-7367)
- Carl Tchagou
- Yang Liu (ORCID: https://orcid.org/0000-0002-8343-4431)
- Alexander Chang (ORCID: https://orcid.org/0009-0002-4273-2595)
- Robert T Dirksen
Institutions
- University of Rochester Medical Center (US)
Publication Details
- Journal
- Journal of Clinical Investigation
- Published
- 2025-12-14
- DOI
- https://doi.org/10.1172/jci194490
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00