Muscle-Specific Mis-Splicing and Heart Disease Exemplified by RBM20

2018-04-09T14:22:16Z (GMT) by Rexiati Maimaiti Mingming Sun Wei Guo
<p> Alternative splicing is an essential post-transcriptional process to generate multiple</p> <p>functional RNAs or proteins from a single transcript. Progress in RNA biology has led to a better</p> <p>understanding of muscle-specific RNA splicing in heart disease. The recent discovery of the</p> <p>muscle-specific splicing factor RNA-binding motif 20 (RBM20) not only provided great insights</p> <p>into the general alternative splicing mechanism but also demonstrated molecular mechanism of</p> <p>how this splicing factor is associated with dilated cardiomyopathy. Here, we review our current</p> <p>knowledge of muscle-specific splicing factors and heart disease, with an emphasis on RBM20 and</p> <p>its targets, RBM20-dependent alternative splicing mechanism, RBM20 disease origin in induced</p> <p>Pluripotent Stem Cells (iPSCs), and RBM20 mutations in dilated cardiomyopathy. In the end, we will</p> <p>discuss the multifunctional role of RBM20 and manipulation of RBM20 as a potential therapeutic</p> <p>target for heart disease.</p>