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Pflugers Arch. 2010 Jul;460(2):467-80. doi: 10.1007/s00424-010-0794-4. Epub 2010 Feb 24.

Ryanodine receptor channelopathies.

Author information

  • 1Department 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.

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.

PMID:
20179962
[PubMed - indexed for MEDLINE]
PMCID:
PMC2885589
Free PMC Article
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