Chapter

Calcium Signaling

Volume 740 of the series Advances in Experimental Medicine and Biology pp 217-234

Date:

Ryanodine Receptor Physiology and Its Role in Disease

  • Johanna T. LannerAffiliated withDepartment of Physiology & Pharmacology, Karolinska Institutet Email author 

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Abstract

The ryanodine receptors (RyRs) is the major intracellular Ca2+ release channel localized in the plasma membrane of the endoplasmatic/sarcoplasmatic reticulum. RyR-mediated Ca2+ 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.

Keywords

Ryanodine receptor Ca2+ Skeletal muscle Cardiac muscle Sarcoplasmatic reticulum Ca2+ leak Ca2+ channel RyR gene mutation Malignant hyperthermia Central core disease Catecholaminergic polymorphic ventricular tachycardia Diabetic cardiomyopathy Alzheimer’s disease