Abstract
Ryanodine receptors (RyR) are intracellular Ca2+-permeable channels that provide the sarcoplasmic reticulum Ca2+ release required for skeletal and cardiac muscle contractions. RyR1 underlies skeletal muscle contraction, and RyR2 fulfills this role in cardiac muscle. Over the past 20 years, numerous mutations in both RyR isoforms have been identified and linked to skeletal and cardiac diseases. Malignant hyperthermia, central core disease, and catecholaminergic polymorphic ventricular tachycardia have been genetically linked to mutations in either RyR1 or RyR2. Thus, RyR channelopathies are both of interest because they cause significant human diseases and provide model systems that can be studied to elucidate important structure–function relationships of these ion channels.
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Acknowledgements
Dr. Marks is a consultant for ARMGO Pharma, Inc, a start-up company targeting RyR2 to treat HF and cardiac arrhythmias, and is the recipient of funding from the National Institutes of Health (HL 061503, HL 067849, HL 056180, and HL 083418) and from the Fondation Leducq.
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Betzenhauser, M.J., Marks, A.R. Ryanodine receptor channelopathies. Pflugers Arch - Eur J Physiol 460, 467–480 (2010). https://doi.org/10.1007/s00424-010-0794-4
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DOI: https://doi.org/10.1007/s00424-010-0794-4