Connexin defects underlie arrhythmogenic right ventricular cardiomyopathy in a novel mouse model

Hum Mol Genet. 2014 Mar 1;23(5):1134-50. doi: 10.1093/hmg/ddt508. Epub 2013 Oct 9.

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) termed a 'disease of the desmosome' is an inherited cardiomyopathy that recently underwent reclassification owing to the identification of left-dominant and biventricular disease forms. Homozygous loss-of-function mutations in the desmosomal component, desmoplakin, are found in patients exhibiting a biventricular form of ARVC; however, no models recapitulate the postnatal hallmarks of the disease as seen in these patients. To gain insights into the homozygous loss-of-function effects of desmoplakin in the heart, we generated cardiomyocyte-specific desmoplakin-deficient mice (DSP-cKO) using ventricular myosin light chain-2-Cre mice. Homozygous DSP-cKO mice are viable but display early ultrastructural defects in desmosomal integrity leading to a cardiomyopathy reminiscent of a biventricular form of ARVC, which includes cell death and fibro-fatty replacement within the ventricle leading to biventricular dysfunction, failure and premature death. DSP-cKO mice also exhibited ventricular arrhythmias that are exacerbated with exercise and catecholamine stimulation. Furthermore, DSP-cKO hearts exhibited right ventricular conduction defects associated with loss of connexin 40 expression and electrical wavefront propagation defects associated with loss of connexin 43 expression. Dose-dependent assessment of the effects of loss of desmoplakin in neonatal ventricular cardiomyocytes revealed primary loss of connexin 43 levels, phosphorylation and function independent of the molecular dissociation of the mechanical junction complex and fibro-fatty manifestation associated with ARVC, suggesting a role for desmoplakin as a primary stabilizer of connexin integrity. In summary, we provide evidence for a novel mouse model, which is reminiscent of the postnatal onset of ARVC while highlighting mechanisms underlying a biventricular form of human ARVC.

Publication types

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

MeSH terms

  • Animals
  • Animals, Newborn
  • Arrhythmias, Cardiac / genetics
  • Arrhythmogenic Right Ventricular Dysplasia / diagnosis
  • Arrhythmogenic Right Ventricular Dysplasia / genetics*
  • Arrhythmogenic Right Ventricular Dysplasia / mortality
  • Brugada Syndrome
  • Cardiac Conduction System Disease
  • Catecholamines / pharmacology
  • Connexin 43 / deficiency
  • Connexin 43 / genetics
  • Connexin 43 / metabolism
  • Connexins / deficiency*
  • Connexins / genetics
  • Desmoplakins / deficiency
  • Disease Models, Animal
  • Electrocardiography
  • Gap Junction alpha-5 Protein
  • Gene Expression
  • Heart / drug effects
  • Heart Conduction System / abnormalities
  • Magnetic Resonance Imaging
  • Mice
  • Mice, Knockout
  • Myocardium / metabolism
  • Myocardium / pathology
  • Myocardium / ultrastructure
  • Myocytes, Cardiac / drug effects
  • Myocytes, Cardiac / metabolism
  • Myocytes, Cardiac / pathology
  • Myocytes, Cardiac / ultrastructure
  • Phosphorylation
  • Physical Conditioning, Animal / adverse effects

Substances

  • Catecholamines
  • Connexin 43
  • Connexins
  • Desmoplakins