High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel K_V11.1.

ABSTRACT:

Background

KCHN2 encodes the K_V11.1 potassium channel responsible for I_Kr, a major repolarization current during the cardiomyocyte action potential. Variants in KCNH2 that lead to decreased I_Kr have been associated with long QT syndrome type 2 (LQT2). The mechanism of LQT2 is most often induced loss of K_V11.1 trafficking to the cell surface. Accurately discriminating between variants with normal and abnormal trafficking would aid in understanding the deleterious nature of these variants; however, the volume of reported nonsynonymous KCNH2 variants precludes the use of conventional methods for functional study.

Objective

The purpose of this study was to report a high-throughput, multiplexed screening method for KCNH2 genetic variant

SUBMITTER: Kozek KA 

PROVIDER: S-EPMC7704534 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature