Dilated cardiomyopathy caused by tissue-specific ablation of SC35 in the heart

EMBO J. 2004 Feb 25;23(4):885-96. doi: 10.1038/sj.emboj.7600054. Epub 2004 Feb 12.

Abstract

Many genetic diseases are caused by mutations in cis-acting splicing signals, but few are triggered by defective trans-acting splicing factors. Here we report that tissue-specific ablation of the splicing factor SC35 in the heart causes dilated cardiomyopathy (DCM). Although SC35 was deleted early in cardiogenesis by using the MLC-2v-Cre transgenic mouse, heart development appeared largely unaffected, with the DCM phenotype developing 3-5 weeks after birth and the mutant animals having a normal life span. This nonlethal phenotype allowed the identification of downregulated genes by microarray, one of which was the cardiac-specific ryanodine receptor 2. We showed that downregulation of this critical Ca2+ release channel preceded disease symptoms and that the mutant cardiomyocytes exhibited frequency-dependent excitation-contraction coupling defects. The implication of SC35 in heart disease agrees with a recently documented link of SC35 expression to heart failure and interference of splicing regulation during infection by myocarditis-causing viruses. These studies raise a new paradigm for the etiology of certain human heart diseases of genetic or environmental origin that may be triggered by dysfunction in RNA processing.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Animals, Newborn
  • Calcium / physiology
  • Cardiomyopathy, Dilated / genetics
  • Cardiomyopathy, Dilated / metabolism*
  • Cardiomyopathy, Dilated / pathology
  • Cell Death
  • Cell Proliferation
  • Down-Regulation
  • Gene Expression Profiling
  • Heart / embryology
  • Heart / physiopathology
  • Mice
  • Mice, Knockout
  • Mutation
  • Myocardial Contraction
  • Myocardium / metabolism*
  • Myocardium / pathology
  • Myocytes, Cardiac / metabolism
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism*
  • Oligonucleotide Array Sequence Analysis
  • Ribonucleoproteins / genetics
  • Ribonucleoproteins / metabolism*
  • Ryanodine Receptor Calcium Release Channel / biosynthesis
  • Ryanodine Receptor Calcium Release Channel / genetics
  • Serine-Arginine Splicing Factors

Substances

  • Nuclear Proteins
  • Ribonucleoproteins
  • Ryanodine Receptor Calcium Release Channel
  • SRSF2 protein, mouse
  • Serine-Arginine Splicing Factors
  • Calcium