Journal
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
Volume 460, Issue 2, Pages 467-480Publisher
SPRINGER HEIDELBERG
DOI: 10.1007/s00424-010-0794-4
Keywords
Ryanodine receptors; Calcium-induced calcium release; Muscle contraction; Arrhythmias; Mutation
Categories
Funding
- National Institutes of Health [HL 061503, HL 067849, HL 056180, HL 083418]
- Fondation Leducq
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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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