Multiple mechanisms underlie increased cardiac late sodium current.

ABSTRACT:

Background

We recently reported a quantitative relationship between the degree of functional perturbation reported in the literature for 356 variants in the cardiac sodium channel gene SCN5A and the penetrance of resulting arrhythmia phenotypes. In the course of that work, we identified multiple SCN5A variants, including R1193Q, that are common in populations but are reported in human embryonic kidney (HEK) cells to generate large late sodium current (I_Na-L).

Objective

The purpose of this study was to compare the functional properties of R1193Q with those of the well-studied type 3 long QT syndrome mutation ΔKPQ.

Methods

We compared functional properties of SCN5A R1193Q with those of ΔKPQ in Chinese hamster ovary (CHO) cells at baseline and after exposure t

SUBMITTER: Kroncke BM 

PROVIDER: S-EPMC6655535 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature