Work

Modeling incomplete penetrance in long QT syndrome type 3 through ion channel heterogeneity: an in silico population study

Year: 2022

Type: article

Abstract: An in silico population approach investigates the relationship between variability in ion channel expression and gain-of-function mutations in the voltage-gated sodium channel associated with the congenital disorder long QT syndrome type 3 (LQT3). We find that ion channel variability can contribute to incomplete penetrance of the mutation, with mutant-specific differences in ion channel conductances leading to susceptibility to proarrhythmic action potential duration prolongation or early afterdepolarizations.

Source: American Journal of Physiology-Heart and Circulatory Physiology

DOI: 10.1152/ajpheart.00430.2022

Authors: Jacob A. Miller, Nicolae Moise, Seth H. Weinberg

Institutions: The Ohio State University, The Ohio State University Wexner Medical Center

Language: English

Topic: Cardiac electrophysiology and arrhythmias

Subfield: Cardiology and Cardiovascular Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: American Heart Association, National Heart, Lung, and Blood Institute