Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome.

ABSTRACT:

Background

Gain-of-function (GOF) mutations in the KATP channel subunits Kir6.1 and SUR2 cause Cantu syndrome (CS), a disease characterized by multiple cardiovascular abnormalities.

Objective

The purpose of this study was to better determine the electrophysiologic consequences of such GOF mutations in the heart.

Methods

We generated transgenic mice (Kir6.1-GOF) expressing ATP-insensitive Kir6.1[G343D] subunits under α-myosin heavy chain (α-MHC) promoter control, to target gene expression specifically in cardiomyocytes, and performed patch-clamp experiments on isolated ventricular myocytes and invasive electrophysiology on anesthetized mice.

Results

In Kir6.1-GOF ventricular myocytes, KATP channels showed decreased ATP sensitivity but no significant change in cu

SUBMITTER: Levin MD 

PROVIDER: S-EPMC4624040 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature