Journal Article

Somatic Mutations in the Connexin 40 Gene (GJA5) in Atrial Fibrillation

Tesson, Frederique, Gollob, Michael H, Jones, Douglas L, Bai, Donglin, Klein, George J, Krahn, Andrew D, Shao, Qing, Liu, Xiaoqin, Guiraudon, Gerard M, Gong, Xiang-Qun, Tang, Anthony S.L, Ebihara, Lisa, Yee, Raymond, Veinot, John P, Skanes, Allan C, Danis, Lynne, Stewart, Alexandre F.R

2006

Overview

In 4 of 15 patients with idiopathic atrial fibrillation, four novel, heterozygous mutations in GJA5 — the gene for the gap-junction protein connexin 40 — were identified. These supplement the list of mutations that cause atrial fibrillation and will improve our understanding of the molecular basis of atrial fibrillation. In 4 of 15 patients with idiopathic atrial fibrillation, four novel, heterozygous mutations in GJA5 — the gene for the gap-junction protein connexin 40 — were identified. Atrial fibrillation is characterized by rapid, erratic electrical activation of the atrial myocardium, resulting in the loss of effective contractility, an increased likelihood of clot formation, and an increased risk of stroke. 1 The rapid atrial activity may be conducted to the ventricles, resulting in the deterioration of heart function. In addition to causing substantial morbidity, atrial fibrillation confers an increased risk of mortality that is independent of coexisting risk factors. 2 In the United States, more than 2 million adults have atrial fibrillation, with the prevalence increasing with age (5.9 percent among those older than 65 years). 3 Thus, the socioeconomic burden . . .

• Publisher: Massachusetts Medical Society
• Subject: Adult / Age of Onset / Amino Acid Sequence / Atrial Fibrillation - genetics / Atrial Fibrillation - metabolism / Atrial Fibrillation - pathology / Base Sequence / Biological and medical sciences / Cardiac arrhythmia / Cardiac dysrhythmias / Cardiology. Vascular system / Cell Line, Tumor / Colleges & universities / Connexins - genetics / Connexins - metabolism / Deoxyribonucleic acid / DNA / DNA Mutational Analysis / Female / Gap Junction alpha-5 Protein / Gap Junctions - metabolism / Gene expression / General aspects / Heart / Heart Atria - pathology / Humans / Lymphocytes / Male / Medical sciences / Middle Aged / Molecular Sequence Data / Mortality / Mutagenesis / Mutagenesis, Site-Directed / Mutation / Mutation, Missense / Neuroblastoma - genetics / Neuroblastoma - metabolism / Pathogenesis / Sequence Homology / Transfection