S4153R Is a Gain-of-Function Mutation in the Cardiac Ca2+ Release Channel Ryanodine Receptor Associated With Catecholaminergic Polymorphic Ventricular Tachycardia and Paroxysmal Atrial Fibrillation

Abstract Mutations in ryanodine receptor 2 ( RYR2 ) gene can cause catecholaminergic polymorphic ventricular tachycardia (CPVT). The novel RYR2 -S4153R mutation has been implicated as a cause of CPVT and atrial fibrillation. The mutation has been functionally characterized via store-overload-induced...

Full description

Saved in:
Bibliographic Details
Published in:Canadian journal of cardiology 2013-08, Vol.29 (8), p.993-996
Main Authors: Zhabyeyev, Pavel, PhD, Hiess, Florian, MSc, Wang, Ruiwu, PhD, Liu, Yingjie, MD, Wayne Chen, S.R., PhD, Oudit, Gavin Y., MD, PhD
Format: Article
Language:English
Subjects:
Cardiovascular
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract Mutations in ryanodine receptor 2 ( RYR2 ) gene can cause catecholaminergic polymorphic ventricular tachycardia (CPVT). The novel RYR2 -S4153R mutation has been implicated as a cause of CPVT and atrial fibrillation. The mutation has been functionally characterized via store-overload-induced Ca2+ release (SOICR) and tritium-labelled ryanodine ([3 H]ryanodine) binding assays. The S4153R mutation enhanced propensity for spontaneous Ca2+ release and reduced SOICR threshold but did not alter Ca2+ activation of [3 H]ryanodine binding, a common feature of other CPVT gain-of-function RYR2 mutations. We conclude that the S4153R mutation is a gain-of-function RYR2 mutation associated with a clinical phenotype characterized by both CPVT and atrial fibrillation.
ISSN:0828-282X
1916-7075
DOI:10.1016/j.cjca.2012.12.019