King of hearts: a splicing factor rules cardiac proteins

Nat Med. 2012 May 4;18(5):660-1. doi: 10.1038/nm.2762.

Abstract

Alternative splicing ensures the expression of functionally diverse proteins from individual genes; however, aberrant mRNA splicing is associated with various conditions, including heart disease. A recent study provides new mechanistic insights into heart failure by showing that a human cardiomyopathy-linked mutation in a cardiac splice factor affects post-transcriptional regulation, causing the expression of anomalous isoforms of a whole network of cardiac proteins (pages 766-773).

Publication types

  • Comment

MeSH terms

  • Animals
  • Cardiomyopathy, Dilated / genetics*
  • Connectin
  • Humans
  • Muscle Proteins / genetics*
  • Protein Kinases / genetics*
  • RNA Splicing*
  • RNA-Binding Proteins / genetics*

Substances

  • Connectin
  • Muscle Proteins
  • RBM20 protein, rat
  • RNA-Binding Proteins
  • TTN protein, human
  • ribonucleic acid binding motif protein 20, human
  • Protein Kinases