Phenotypic manifestations of mutations in genes encoding subunits of cardiac potassium channels.

Abstract

Since 1995, when a potassium channel gene, hERG (human ether-à-go-go-related gene), now referred to as KCNH2, encoding the rapid component of cardiac delayed rectifier potassium channels was identified as being responsible for type 2 congenital long-QT syndrome, a number of potassium channel genes have been shown to cause different types of inherited cardiac arrhythmia syndromes. These include congenital long-QT syndrome, short-QT syndrome, Brugada syndrome, early repolarization syndrome, and familial atrial fibrillation. Genotype-phenotype correlations have been investigated in some inherited arrhythmia syndromes, and as a result, gene-specific risk stratification and gene-specific therapy and management have become available, particularly for patients with congenital long-QT syndrome. In this review article, the molecular structure and function of potassium channels, the clinical phenotype due to potassium channel gene mutations, including genotype-phenotype correlations, and the diverse mechanisms underlying the potassium channel gene-related diseases will be discussed.

• Authors: Wataru Shimizu, Minoru Horie
• Journal: Circulation research (Circ Res) Vol. 109 Issue 1 Pg. 97-109 (Jun 24 2011) ISSN: 1524-4571 [Electronic] United States
• PMID: 21700951 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Potassium Channels
• Protein Subunits

Topics

• Action Potentials
• Animals
• Atrial Fibrillation (genetics)
• Brugada Syndrome (genetics)
• Genetic Association Studies
• Heart (physiology)
• Heart Diseases (genetics)
• Humans
• Long QT Syndrome (genetics, therapy)
• Mutation
• Phenotype
• Potassium Channels (chemistry, genetics, physiology)
• Protein Subunits