Disruption of protein quality control of the human ether-a-go-go related gene K⁺ channel results in profound long QT syndrome.

ABSTRACT:

Background

Long QT syndrome (LQTS) is a hereditary disease that predisposes patients to life-threatening cardiac arrhythmias and sudden cardiac death. Our previous study of the human ether-à-go-go related gene (hERG)-encoded K⁺ channel (K_v11.1) supports an association between hERG and RING finger protein 207 (RNF207) variants in aggravating the onset and severity of LQTS, specifically T613M hERG (hERG_T613M) and RNF207 frameshift (RNF207_G603fs) mutations. However, the underlying mechanistic underpinning remains unknown.

Objective

The purpose of the present study was to test the role of RNF207 in the function of hERG-encoded K⁺ channel subunits.

Methods

Whole-cell patch-clamp experiments were performed in human embr

SUBMITTER: Ledford HA 

PROVIDER: S-EPMC8810706 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature