RBM20-Related Cardiomyopathy: Current Understanding and Future Options

Splice regulators play an essential role in the transcriptomic diversity of all eukaryotic cell types and organ systems. Recent evidence suggests a contribution splice-regulatory networks many diseases, such as cardiomyopathies. Adaptive splice regulators, RNA-binding motif protein 20 (RBM20) determine physiological mRNA landscape formation, rare variants RBM20 gene explain up to 6% genetic dilated cardiomyopathy (DCM) cases. With ample knowledge from RBM20-deficient mice, rats, swine induced pluripotent stem cells (iPSCs), downstream targets quantitative effects on splicing are now well-defined prerequisites for corrective therapeutic approaches set. This review article highlights some recent advances field, ranging aspects granule formation 3D genome architectures underlying RBM20-related cardiomyopathy. Promising strategies presented put into context with pathophysiological characteristics diseases.