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RBM20-related cardiomyopathy: current understanding and future options

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Item Type:Review
Title:RBM20-related cardiomyopathy: current understanding and future options
Creators Name:Koelemen, J. and Gotthardt, M. and Steinmetz, L.M. and Meder, B.
Abstract:Splice regulators play an essential role in the transcriptomic diversity of all eukaryotic cell types and organ systems. Recent evidence suggests a contribution of splice-regulatory networks in many diseases, such as cardiomyopathies. Adaptive splice regulators, such as RNA-binding motif protein 20 (RBM20) determine the physiological mRNA landscape formation, and rare variants in the RBM20 gene explain up to 6% of genetic dilated cardiomyopathy (DCM) cases. With ample knowledge from RBM20-deficient mice, rats, swine and induced pluripotent stem cells (iPSCs), the downstream targets and quantitative effects on splicing are now well-defined and the prerequisites for corrective therapeutic approaches are set. This review article highlights some of the recent advances in the field, ranging from aspects of granule formation to 3D genome architectures underlying RBM20-related cardiomyopathy. Promising therapeutic strategies are presented and put into context with the pathophysiological characteristics of RBM20-related diseases.
Keywords:RBM20, Alternative Splicing, Arrhythmia, Dilated Cardiomyopathy, Gene Therapy, Heart Failure, Animals, Pigs, Rats, Mice
Source:Journal of Clinical Medicine
ISSN:2077-0383
Publisher:MDPI
Volume:10
Number:18
Page Range:4101
Date:2 September 2021
Official Publication:https://doi.org/10.3390/jcm10184101
PubMed:View item in PubMed

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