Loss of Cardiac Splicing Regulator RBM20 Is Associated With Early-Onset Atrial Fibrillation

Oliver B. Vad, Elisavet Angeli,Martin Liss,Gustav Ahlberg,Laura Andreasen,Ingrid E. Christophersen,Camilla C. Hansen, Sophie Møller,Ylva Hellsten, Stig Haunsoe,Arnljot Tveit,Jesper H. Svendsen,Michael Gotthardt,Pia R. Lundegaard,Morten S. Olesen

JACC: Basic to Translational Science（2023）

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摘要

•Loss of function variants in the key cardiac splicing regulator RBM20 were associated with atrial fibrillation in 2 independent cohorts.•Loss of RBM20 facilitated structural and transcriptional changes in the atria and affected mitochondrial function.•Alternative splicing may act as a novel proarrhythmic mechanism in the atria through atrial remodeling and altered mitochondrial energetics.

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关键词

alternative splicing,atrial cardiomyopathy,atrial fibrillation,genetics,RBM20

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