Functional Defect of Ryanodine Receptor with Gene Mutations

Cardiac ryanodine receptor(RyR2)governs the release of Ca~(2+) from the sarcoplasmic reticulum,which initiates muscle contracion. Mutations in RyR2 have been linked to ventricular tachycardia and sudden death,but the precise molecular mechanism is unclear,it may incriminate to the dissociation of FK506-binding protein,enhanced RyR2 luminal Ca~(2+) activation and defective regulation of interdomain interactions within RyR2.This article is a review of the recent theories about functional defect of ryanodine receptor with gene mutations.