期刊
CURRENT PHARMACEUTICAL DESIGN
卷 22, 期 31, 页码 4744-4751出版社
BENTHAM SCIENCE PUBL LTD
DOI: 10.2174/1381612822666160701145322
关键词
RBM20; heart failure; dilated cardiomyopathy; alternative splicing; titin; CaMKII
资金
- National Natural Science Foundation of China [81470500]
- Distinguished Young Scholar Cultivation Project of Xijing Hospital [XJZT14J03]
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [P20GM103432] Funding Source: NIH RePORTER
Heart failure is one of the devastating public health problems with high mortality. Among various contributing factors for heart failure, severe dilated cardiomyopathy is the most common indication for cardiac transplantation. Recent evidence revealed that RBM20 mutation represents one main cause for familial dilated cardiomyopathy with a 3% prevalence in all forms of dilated cardiomyopathy. Further scrutiny of molecular mechanisms suggests a role for RBM20 as a functional splicing factor for protein isoform transition, indicating the clinical value of RBM20 mutations in the diagnosis and treatment of heart diseases. RBM20 alternatively splices a set of genes including titin, CaMKIID, and GIT2 at the post transcriptional level to yield diverse isoforms. These target proteins are necessary for cardiac homeostasis including structure and signal transduction. Mutations in RBM20 cause dilated cardiomyopathy along with dysregulated isoform switch. This review aims to summarize the current knowledge of RBM20-related dilated cardiomyopathy and heart failure as well as the underlying mechanism. We will emphasize and thoroughly discuss two splicing targets including titin and CaMKII which are known to play a vital role in dilated cardiomyopathy and heart failure.
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