title: Ryanodine receptor physiology and its role in disease.
abstract: The ryanodine receptors (RyRs) is the major intracellular Ca(2+) release channel localized in the plasma membrane of the endoplasmatic/sarcoplasmatic reticulum. RyR-mediated Ca(2+) release is crucial for every heart beat and skeletal muscle contraction and also important in learning and memory. Given the important role RyR has in physiological functions it is not surprising that dysregulation and impaired RyR channel function contributes to severe pathologies e.g. cardiac arrhythmias and Alzheimer's disease. Mutations in the RyR channels are associated with a number of human disorders e.g. malignant hyperthermia (MH) and central core disease (CCD), catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular dysplasia (ARVD). RyRs are modulated directly and indirectly by various ions, small molecules and proteins and RyR structure and function are expected to be defined within this macromolecular set of interactions. This article discusses the physiological function of RyR and examines its role in disorders and diseases.
authors.affiliation: Department of Physiology & Pharmacology, Karolinska Institutet, von Eulersväg 8, 171 77 Stockholm, Sweden. johanna.lanner@ki.se
authors.forename: Johanna T
authors.initials: JT
authors.lastname: Lanner
mesh_terms: D000544:Alzheimer Disease / Q000209:etiology; D000818:Animals; D002118:Calcium / Q000378:metabolism; D009202:Cardiomyopathies / Q000209:etiology; D006801:Humans; D008305:Malignant Hyperthermia / Q000209:etiology; D009119:Muscle Contraction; D009154:Mutation; D009200:Myocardial Contraction; D020512:Myopathy, Central Core / Q000209:etiology; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics / Q000502:physiology*; D017180:Tachycardia, Ventricular / Q000209:etiology; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D002118:Calcium