Ontology highlight
ABSTRACT:
SUBMITTER: Decher N
PROVIDER: S-EPMC5376757 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Decher Niels N Decher Niels N Ortiz-Bonnin Beatriz B Friedrich Corinna C Schewe Marcus M Kiper Aytug K AK Rinné Susanne S Seemann Gunnar G Peyronnet Rémi R Zumhagen Sven S Bustos Daniel D Kockskämper Jens J Kohl Peter P Just Steffen S González Wendy W Baukrowitz Thomas T Stallmeyer Birgit B Schulze-Bahr Eric E
EMBO molecular medicine 20170401 4
In a patient with right ventricular outflow tract (RVOT) tachycardia, we identified a heterozygous point mutation in the selectivity filter of the stretch-activated K<sub>2P</sub> potassium channel TREK-1 (<i>KCNK2</i> or K<sub>2P</sub>2.1). 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. Inc ...[more]