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Desmosomes and the sodium channel complex: implications for arrhythmogenic cardiomyopathy and Brugada syndrome

Marina Cerrone1, Mario Delmar1

  • 1Leon H. Charney Division of Cardiology, New York University School of Medicine, 522 First Avenue, SRB 806, New York, NY 10016.

Trends in Cardiovascular Medicine
|March 25, 2014
PubMed

Insights

Mutations in desmosome proteins, like plakophilin-2 (PKP2), reduce sodium current (INa) in arrhythmogenic cardiomyopathy (AC). This links AC and Brugada syndrome (BrS) as part of a spectrum of sodium channel dysfunction.

Area of Science:

  • Cardiology
  • Molecular Biology
  • Genetics

Background:

  • Arrhythmogenic cardiomyopathy (AC) involves desmosome mutations and life-threatening arrhythmias.
  • Arrhythmias can precede structural heart changes in AC.
  • Desmosomes are crucial for cardiac cell adhesion and function.

Purpose of the Study:

  • To explore the relationship between desmosomes and sodium channel function in AC.
  • To investigate the role of plakophilin-2 (PKP2) in sodium current (INa).
  • To examine the overlap between AC and Brugada syndrome (BrS).

Main Methods:

  • Review of existing evidence on desmosome proteins and cardiac arrhythmias.
  • Analysis of the impact of plakophilin-2 (PKP2) on sodium current (INa).
  • Examination of PKP2 mutations in patients with Brugada syndrome (BrS).

Main Results:

  • Loss of desmosomal integrity, including PKP2 mutations, reduces sodium current (INa).
  • PKP2 facilitates the trafficking of proteins to the intercalated disc, influencing INa.
  • PKP2 mutations are found in Brugada syndrome (BrS) patients.

Conclusions:

  • Desmosome integrity, particularly PKP2, is critical for normal sodium current (INa).
  • AC and BrS may represent a continuum of disease related to sodium current deficiency.
  • PKP2 mutations link arrhythmogenic cardiomyopathy and Brugada syndrome.

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