Identification and functional characterization of the human ether-a-go-go-related gene Q738X mutant associated with hereditary long QT syndrome type 2

Int J Mol Med. 2014 Sep;34(3):810-5. doi: 10.3892/ijmm.2014.1827. Epub 2014 Jul 1.

Abstract

QT interval prolongation, a risk factor for arrhythmias, may be associated with genetic variants in genes governing cardiac repolarization. Long QT syndrome type 2 (LQT2) is caused by mutations in the human ether-a-go‑go-related gene (hERG). This gene encodes a voltage-gated potassium channel comprised of 4 subunits, and the formation of functional channels requires the proper assembly of these 4 subunits. In the present study, we investigated the role of the LQT2 mutation, Q738X, which causes truncation of the C-terminus of hERG channels, in the assembly and function of hERG channels. When expressed in HEK293 cells, Q738X did not generate an hERG current. The co-expression of Q738X with wild-type (WT)-hERG did not cause the dominant-negative suppression of the WT-hERG current. Western blot analysis and confocal microscopy revealed that the Q738X mutation caused defective trafficking of hERG channel proteins. Co-immunoprecipitation demonstrated that Q738X did not exhibit dominant-negative effects due to the failure of the mutant and WT subunits to co-assemble. In conclusion, the functional loss caused by the Q738X mutation in hERG K+ channels may be attributed to the disruption of tetrameric assembly.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ERG1 Potassium Channel
  • Ether-A-Go-Go Potassium Channels / genetics*
  • Genetic Predisposition to Disease*
  • HEK293 Cells
  • Humans
  • Ion Channel Gating
  • Long QT Syndrome / genetics*
  • Mutation / genetics*
  • Transfection

Substances

  • ERG1 Potassium Channel
  • Ether-A-Go-Go Potassium Channels
  • KCNH2 protein, human

Supplementary concepts

  • Long Qt Syndrome 2