Defining a new paradigm for human arrhythmia syndromes: Phenotypic manifestations of gene mutations in ion channel-and transporter-associated proteins

Michael John Ackerman, Peter J. Mohler

Research output: Contribution to journalArticle

55 Citations (Scopus)

Abstract

Over the past 15 years, gene mutations in cardiac ion channels have been linked to a host of potentially fatal human arrhythmias including long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. More recently, a new paradigm for human arrhythmia has emerged based on gene mutations that affect the activity of cardiac ion channel-and transporter-associated proteins. As part of the Circulation Research thematic series on inherited arrhythmias, this review focuses on the emerging field of human arrhythmias caused by dysfunction in cytosolic gene products (including ankyrins, yotiao, syntrophin, and caveolin-3) that regulate the activities of key membrane ion channels and transporters.

Original languageEnglish (US)
Pages (from-to)457-465
Number of pages9
JournalCirculation Research
Volume107
Issue number4
DOIs
StatePublished - Aug 20 2010

Fingerprint

Ion Channels
Cardiac Arrhythmias
Mutation
Genes
Proteins
Caveolin 3
Ankyrins
Brugada Syndrome
Long QT Syndrome
Membrane Transport Proteins
Research

Keywords

  • AKAP
  • ankyrin
  • arrhythmia
  • caveolin-3
  • cytoskeleton
  • syntrophin
  • yotiao

ASJC Scopus subject areas

  • Physiology
  • Cardiology and Cardiovascular Medicine

Cite this

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