Channelpedia

PubMed 19343045


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Kv1.5



Title: Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation.

Authors: Yiqing Yang, Jun Li, Xiaoping Lin, Yanzong Yang, Kui Hong, Lei Wang, Jinqiu Liu, Li Li, Dinghong Yan, Dandan Liang, Junjie Xiao, Hongmei Jin, Jie Wu, Yangyang Zhang, Yi-Han Chen

Journal, date & volume: J. Hum. Genet., 2009 May , 54, 277-83

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/19343045


Abstract
Accumulating evidence reveals that genetic variants play pivotal roles in familial atrial fibrillation (AF). However, the molecular defects in most patients with AF remain to be identified. Here, we report on three novel KCNA5 mutations that were identified in 4 of 120 unrelated AF families. Among them, T527M was found in two AF families, and A576V and E610K in two other AF families, respectively. The mutations T527M and A576V were also detected in 2 and 1 of 256 patients with idiopathic AF, respectively. The same mutations were not observed in 200 secondary AF patients and 500 controls. Functional analyses revealed consistent loss-of-function effects of mutant KCNA5 proteins on the ultrarapidly activating delayed rectifier potassium currents. These findings expand the spectrum of mutations in KCNA5 linked to AF and provide new insight into the molecular mechanism involved in AF.