Sodium permeable and "hypersensitive" TREK-1 channels cause ventricular tachycardia

EMBO Mol Med. 2017 Apr;9(4):403-414. doi: 10.15252/emmm.201606690.

Abstract

In a patient with right ventricular outflow tract (RVOT) tachycardia, we identified a heterozygous point mutation in the selectivity filter of the stretch-activated K2P potassium channel TREK-1 (KCNK2 or K2P2.1). This mutation introduces abnormal sodium permeability to TREK-1. In addition, mutant channels exhibit a hypersensitivity to stretch-activation, suggesting that the selectivity filter is directly involved in stretch-induced activation and desensitization. Increased sodium permeability and stretch-sensitivity of mutant TREK-1 channels may trigger arrhythmias in areas of the heart with high physical strain such as the RVOT We present a pharmacological strategy to rescue the selectivity defect of the TREK-1 pore. Our findings provide important insights for future studies of K2P channel stretch-activation and the role of TREK-1 in mechano-electrical feedback in the heart.

Keywords: RVOT; K2P; TREK‐1; arrhythmia; two‐pore domain K+ channel.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Middle Aged
  • Mutant Proteins / genetics
  • Mutant Proteins / metabolism
  • Potassium Channels, Tandem Pore Domain / genetics*
  • Potassium Channels, Tandem Pore Domain / metabolism*
  • Sodium / metabolism*
  • Tachycardia, Ventricular / genetics*
  • Tachycardia, Ventricular / physiopathology*

Substances

  • Mutant Proteins
  • Potassium Channels, Tandem Pore Domain
  • potassium channel protein TREK-1
  • Sodium