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Genetic and epigenetic regulation of arrhythmogenic cardiomyopathy

Stefan Mazurek1, Gene H Kim1

  • 1University of Chicago Medicine, Section of Cardiology, United States.

Biochimica Et Biophysica Acta. Molecular Basis of Disease
|April 30, 2017
PubMed

Insights

Arrhythmogenic cardiomyopathy (AC) involves intercalated disc dysfunction. This review explores new genetic and epigenetic factors, like the Hippo pathway and microRNAs, contributing to AC development beyond desmosomal mutations.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Molecular Biology

Background:

  • Arrhythmogenic cardiomyopathy (AC) is an intercalated disc disease affecting cardiac conduction.
  • Previously known as ARVC/D, AC now includes left-dominant and biventricular forms.
  • Desmosomal mutations explain only ~50% of AC cases, suggesting other mechanisms.

Purpose of the Study:

  • To review newly identified genetic and epigenetic mechanisms in arrhythmogenic cardiomyopathy.
  • To highlight the role of the Hippo pathway and microRNAs in AC pathogenesis.
  • To broaden understanding of AC beyond desmosomal defects.

Main Methods:

  • Literature review focusing on recent genetic and epigenetic findings in AC.
  • Analysis of studies investigating desmosome-nucleus, gap junction, and ion channel crosstalk.
  • Inclusion of animal and cellular studies on AC pathobiology.

Main Results:

  • AC pathogenesis involves more than desmosomal mutations.
  • Crosstalk between cellular components (desmosomes, nucleus, gap junctions, ion channels) is crucial.
  • The Hippo pathway and microRNAs represent emerging mechanisms in AC.

Conclusions:

  • AC is a complex disease with diverse genetic and epigenetic underpinnings.
  • Understanding novel pathways like Hippo and microRNAs is vital for AC diagnosis and treatment.
  • Further research into these mechanisms will advance AC management.

Keywords:
Arrhythmogenic cardiomyopathyDesmosomeHippoMicroRNASingle nucleotide polymorphism

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