Cardiac compartment-specific overexpression of a modified retinoic acid receptor produces dilated cardiomyopathy and congestive heart failure in transgenic mice

J Clin Invest. 1997 Oct 15;100(8):1958-68. doi: 10.1172/JCI119727.

Abstract

Retinoids play a critical role in cardiac morphogenesis. To examine the effects of excessive retinoid signaling on myocardial development, transgenic mice that overexpress a constitutively active retinoic acid receptor (RAR) controlled by either the alpha- or beta-myosin heavy chain (MyHC) promoter were generated. Animals carrying the alpha-MyHC-RAR transgene expressed RARs in embryonic atria and in adult atria and ventricles, but developed no signs of either malformations or disease. In contrast, beta-MyHC-RAR animals, where expression was activated in fetal ventricles, developed a dilated cardiomyopathy that varied in severity with transgene copy number. Characteristic postmortem lesions included biventricular chamber dilation and left atrial thrombosis; the incidence and severity of these lesions increased with increasing copy number. Transcript analyses showed that molecular markers of hypertrophy, alpha-skeletal actin, atrial natriuretic factor and beta-MyHC, were upregulated. Cardiac performance of transgenic hearts was evaluated using the isolated perfused working heart model as well as in vivo, by transthoracic M-mode echocardiography. Both analyses showed moderate to severe impairment of left ventricular function and reduced cardiac contractility. Thus, expression of a constitutively active RAR in developing atria and/ or in postnatal ventricles is relatively benign, while ventricular expression during gestation can lead to significant cardiac dysfunction.

Publication types

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

MeSH terms

  • Animals
  • Cardiomyopathy, Dilated / genetics*
  • Echocardiography
  • Female
  • Gene Dosage
  • Gene Expression
  • Gene Targeting / methods
  • Heart / embryology
  • Heart / growth & development
  • Heart Defects, Congenital / genetics*
  • Heart Failure / genetics*
  • Male
  • Mice
  • Mice, Transgenic
  • Myocardium / pathology*
  • Myosin Heavy Chains / genetics
  • Promoter Regions, Genetic
  • Receptors, Retinoic Acid / genetics*
  • Ventricular Function, Left

Substances

  • Receptors, Retinoic Acid
  • Myosin Heavy Chains