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Desmosome-ion channel interactions and their possible role in arrhythmogenic cardiomyopathy

Mario Delmar1

  • 1The Leon H. Charney Division of Cardiology, New York University School of Medicine, 522 First Avenue, Smilow 805, New York, NY 10016, USA. mario.delmar@nyumc.org

Pediatric Cardiology
|March 13, 2012
PubMed

Insights

Arrhythmogenic cardiomyopathy, often caused by desmosomal mutations, may involve altered gap junction and sodium channel function. This review explores the mechanisms linking mechanical junction defects to heart rhythm disturbances.

Area of Science:

  • Cardiology
  • Molecular Biology
  • Genetics

Background:

  • Arrhythmogenic cardiomyopathy (AC), particularly arrhythmogenic right ventricular cardiomyopathy (ARVC), is frequently linked to mutations in desmosomal proteins.
  • Desmosomes are crucial mechanical junctions in cardiac myocytes, maintaining tissue integrity.
  • The precise mechanisms by which desmosomal defects disrupt heart rhythm remain incompletely understood.

Purpose of the Study:

  • To investigate the potential role of altered gap junction and sodium channel function in the arrhythmogenic substrate of AC.
  • To review current literature exploring the link between mechanical junction mutations and cardiac arrhythmias.

Main Methods:

  • Literature review of studies investigating arrhythmogenic cardiomyopathy, desmosomal proteins, gap junctions, and sodium channels.
  • Analysis of proposed molecular and cellular mechanisms.

Main Results:

  • Mutations in desmosomal proteins are the primary genetic cause of AC/ARVC.
  • Evidence suggests that disruptions in desmosomes can indirectly affect the function of other critical cardiac structures, including gap junctions and sodium channels.
  • These functional changes in gap junctions and sodium channels may contribute to the arrhythmogenic substrate.

Conclusions:

  • Altered function of gap junctions and sodium channels is a plausible component of the arrhythmogenic substrate in AC.
  • Understanding these downstream effects of desmosomal mutations is key to elucidating AC pathogenesis.
  • Further research is warranted to fully elucidate the interplay between mechanical junctions and electrophysiological function in AC.

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