Novel G1481V and Q1491H SCN5A Mutations Linked to Long QT Syndrome Destabilize the Nav1.5 Inactivation State.

ABSTRACT:

Background

Na_v1.5, which is encoded by the SCN5A gene, is the predominant voltage-gated Na⁺ channel in the heart. Several mutations of this gene have been identified and reported to be involved in several cardiac rhythm disorders, including type 3 long QT interval syndrome, that can cause sudden cardiac death. We analyzed the biophysical properties of 2 novel variants of the Na_v1.5 channel (Q1491H and G1481V) detected in 5- and 12-week-old infants diagnosed with a prolonged QT interval.

Methods

The Na_v1.5 wild-type and the Q1491H and G1481V mutant channels were reproduced in vi tr o. Wild-type or mutant channels were cotransfected in human embryonic kidney (HEK) 293 cells with the beta 1 regulatory subun

SUBMITTER: Plumereau Q 

PROVIDER: S-EPMC7984979 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature