Stabilization of desmoglein-2 binding rescues arrhythmia in arrhythmogenic cardiomyopathy

JCI Insight. 2020 May 7;5(9):e130141. doi: 10.1172/jci.insight.130141.

Abstract

Arrhythmogenic cardiomyopathy (AC) is a genetic disease causing arrhythmia and sudden cardiac death with only symptomatic therapy available at present. Mutations of desmosomal proteins, including desmoglein-2 (Dsg2) and plakoglobin (Pg), are the major cause of AC and have been shown to lead to impaired gap junction function. Recent data indicated the involvement of anti-Dsg2 autoantibodies in AC pathogenesis. We applied a peptide to stabilize Dsg2 binding similar to a translational approach to pemphigus, which is caused by anti-desmoglein autoantibodies. We provide evidence that stabilization of Dsg2 binding by a linking peptide (Dsg2-LP) is efficient to rescue arrhythmia in an AC mouse model immediately upon perfusion. Dsg2-LP, designed to cross-link Dsg2 molecules in proximity to the known binding pocket, stabilized Dsg2-mediated interactions on the surface of living cardiomyocytes as revealed by atomic force microscopy and induced Dsg2 oligomerization. Moreover, Dsg2-LP rescued disrupted cohesion induced by siRNA-mediated Pg or Dsg2 depletion or l-tryptophan, which was applied to impair overall cadherin binding. Dsg2-LP rescued connexin-43 mislocalization and conduction irregularities in response to impaired cardiomyocyte cohesion. These results demonstrate that stabilization of Dsg2 binding by Dsg2-LP can serve as a novel approach to treat arrhythmia in patients with AC.

Keywords: Arrhythmias; Cardiology; Cardiovascular disease; Cell migration/adhesion.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Arrhythmogenic Right Ventricular Dysplasia* / metabolism
  • Arrhythmogenic Right Ventricular Dysplasia* / pathology
  • Cell Adhesion
  • Cell Line
  • Connexin 43 / metabolism
  • Desmoglein 2 / metabolism*
  • Mice
  • Myocytes, Cardiac* / metabolism
  • Myocytes, Cardiac* / pathology
  • Peptides / metabolism*
  • Protein Binding

Substances

  • Connexin 43
  • Desmoglein 2
  • Dsg2 protein, mouse
  • GJA1 protein, mouse
  • Peptides