Pflügers Archiv - European Journal of Physiology

, Volume 460, Issue 2, pp 467–480

Ryanodine receptor channelopathies

Invited Review

DOI: 10.1007/s00424-010-0794-4

Cite this article as:
Betzenhauser, M.J. & Marks, A.R. Pflugers Arch - Eur J Physiol (2010) 460: 467. doi:10.1007/s00424-010-0794-4

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.

Keywords

Ryanodine receptorsCalcium-induced calcium releaseMuscle contractionArrhythmiasMutation

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  1. 1.Departments of Physiology and Cellular Biophysics and Medicine, Clyde and Helen Wu Center for Molecular CardiologyColumbia University College of Physicians and SurgeonsNew YorkUSA