Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation.

ABSTRACT:

Background

Atrial fibrillation (AF) is the most common arrhythmia. The potassium current IKs is essential for cardiac repolarization. Gain-of-function mutations in KV7.1, the pore-forming α-subunit of the IKs channel, have been associated with AF. We hypothesized that early-onset lone AF is associated with mutations in the IKs channel regulatory subunit KCNE1.

Methods

In 209 unrelated early-onset lone AF patients (< 40 years) the entire coding sequence of KCNE1 was bidirectionally sequenced. We analyzed the identified KCNE1 mutants electrophysiologically in heterologous expression systems.

Results

Two non-synonymous mutations G25V and G60D were found in KCNE1 that were not present in the control group (n = 432 alleles) and that have not previously been reported in any

SUBMITTER: Olesen MS 

PROVIDER: S-EPMC3359244 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature