This study sought to study the role of junctophilin-2 (JPH2) in atrial fibrillation (AF). Our data suggest a novel mechanism by which reduced JPH2-mediated stabilization of RyR2 due to loss-of-function mutation or reduced JPH2/RyR2 ratios can promote SR Ca2+ leak and atrial arrhythmias, representing a potential novel therapeutic target for AF.
Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization / Beavers D.L.; Wang W.; Ather S.; Voigt N.; Garbino A.; Dixit S.S.; Landstrom A.P.; Li N.; Wang Q.; Olivotto I.; Dobrev D.; Ackerman M.J.; Wehrens X.H.T.. - In: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. - ISSN 0735-1097. - STAMPA. - 62:(2013), pp. 2010-2019. [10.1016/j.jacc.2013.06.052]
Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization
Olivotto I.;
2013
Abstract
This study sought to study the role of junctophilin-2 (JPH2) in atrial fibrillation (AF). Our data suggest a novel mechanism by which reduced JPH2-mediated stabilization of RyR2 due to loss-of-function mutation or reduced JPH2/RyR2 ratios can promote SR Ca2+ leak and atrial arrhythmias, representing a potential novel therapeutic target for AF.
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