RXRalpha overexpression in cardiomyocytes causes dilated cardiomyopathy but fails to rescue myocardial hypoplasia in RXRalpha-null fetuses

J Clin Invest. 2000 Feb;105(3):387-94. doi: 10.1172/JCI8150.

Abstract

Retinoid X receptor alpha-null (RXRalpha-null) mutants exhibit hypoplasia of their ventricular myocardium and die at the fetal stage. In the present study, we wished to determine whether transgenic re-expression of RXRalpha in mutant cardiac myocytes could rescue these defects. Two transgenic mouse lines specifically overexpressing an RXRalpha protein in cardiomyocytes were generated, using the cardiac alpha-myosin heavy chain (alpha-MHC) promoter. Breeding the high copy number transgenic line onto an RXRalpha-null genetic background did not prevent the myocardial hypoplasia and fetal lethality associated with the RXRalpha(-/-) genotype, even though the transgene was expressed in the ventricles as early as 10. 5 days post-coitum. These data suggest that the RXRalpha function involved in myocardial growth may correspond to a non-cell-autonomous requirement forsignal orchestrating the growth and differentiation of myocytes. Interestingly, the adult transgenic mice developed a dilated cardiomyopathy, associated with myofibrillar abnormalities and specific deficiencies in respiratory chain complexes I and II, thus providing an additional model for this genetically complex disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / physiopathology
  • DNA-Binding Proteins / genetics
  • Gene Expression Regulation, Developmental
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / physiopathology
  • Mice
  • Mice, Transgenic
  • Receptors, Retinoic Acid / biosynthesis
  • Receptors, Retinoic Acid / genetics*
  • Retinoid X Receptors
  • Transcription Factors / biosynthesis
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • Receptors, Retinoic Acid
  • Retinoid X Receptors
  • Transcription Factors