Functional study of a KCNH2 mutant: Novel insights on the pathogenesis of the LQT2 syndrome.

ABSTRACT: The K⁺ voltage-gated channel subfamily H member 2 (KCNH2) transports the rapid component of the cardiac delayed rectifying K⁺ current. The aim of this study was to characterize the biophysical properties of a C-terminus-truncated KCNH2 channel, G1006fs/49 causing long QT syndrome type II in heterozygous members of an Italian family. Mutant carriers underwent clinical workup, including 12-lead electrocardiogram, transthoracic echocardiography and 24-hour ECG recording. Electrophysiological experiments compared the biophysical properties of G1006fs/49 with those of KCNH2 both expressed either as homotetramers or as heterotetramers in HEK293 cells. Major findings of this work are as follows: (a) G1006fs/49 is functional at the plasma membrane even when co-expressed with

SUBMITTER: De Zio R 

PROVIDER: S-EPMC6714209 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature