SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome.

ABSTRACT:

Background

Abnormal cardiac ion channels current, including transient outward potassium current (I_to ), is associated with early repolarization syndrome (ERS). Previous studies showed that mutations in SCN1Bβ both to increase the I_to current and to decrease the sodium current. Yet its role in ERS remains unknown.

Objective

To determine the role of mutations in the SCN1Bβ subunits in ERS.

Methods

We screened for mutations in the SCN1B genes from four families with ERS. Wild-type and mutant SCN1Bβ genes were co-expressed with wild-type KCND3 in human embryonic kidney cells (HEK293). Whole-cell patch-clamp technique and co-immunoprecipitation were used to study the electrophysiological properties and explore the underlying mechanisms.

Results

SUBMITTER: Yao H 

PROVIDER: S-EPMC6201368 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature