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.
Keywords: RBM20, heart failure, dilated cardiomyopathy, alternative splicing, titin, CaMKII.
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