title: Ryanodine receptor channelopathies.
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.
authors.affiliation: Department of Physiology, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA.
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Betzenhauser
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Marks
mesh_terms: D000818:Animals; D002118:Calcium / Q000378:metabolism; D053447:Channelopathies / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D008305:Malignant Hyperthermia / Q000235:genetics / Q000503:physiopathology; D051379:Mice; D008822:Mice, Transgenic; D009154:Mutation; D009200:Myocardial Contraction; D020512:Myopathy, Central Core / Q000235:genetics / Q000503:physiopathology; D019837:Ryanodine Receptor Calcium Release Channel / Q000187:drug effects / Q000235:genetics*; D012519:Sarcoplasmic Reticulum / Q000502:physiology; D017180:Tachycardia, Ventricular / Q000235:genetics
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D002118:Calcium