Helmholtz Gemeinschaft


Mutations in the cardiac transcription factor GATA4 in patients with lone atrial fibrillation

Item Type:Article
Title:Mutations in the cardiac transcription factor GATA4 in patients with lone atrial fibrillation
Creators Name:Posch, M.G. and Boldt, L.H. and Polotzki, M. and Richter, S. and Rolf, S. and Perrot, A. and Dietz, R. and Oezcelik, C. and Haverkamp, W.
Abstract:Familial recurrence of atrial fibrillation (AF) is reported in up to 15% of patients with lone AF. Recently, it was proposed that congenital defects in the morphogenesis of the pulmonary vein myocardium are involved in genetic pathogenesis of lone AF. GATA4 is a cardiac transcription factor essentially involved in myocardial development. Mutations in GATA4 are associated with congenital cardiac malformations. To investigate whether GATA4 mutations represent a genetic origin for AF the coding region of GATA4 was sequenced in 96 patients with lone AF. We found a GATA4 mutation (M247T) in a patient with familial lone AF and atrial septal aneurysm without interatrial shunts. The mutation affects a deeply conserved domain adjacent to the first zinc finger domain of GATA4 and was not reported before. A second GATA4 mutation (A411V) was found in a female patient with sporadic lone AF. This variant was previously reported in patients with cardiac septal defects. However, no anomalies of the atrial or ventricular septa were noted in the AF patient harbouring A411V. We report for the first time that mutations in the cardiac transcription factor GATA4 may represent a genetic origin of lone AF. The study proposes that lone AF may share a common genetic origin with congenital cardiac malformations.
Keywords:Lone Atrial Fibrillation, Transcription Factor, GATA4
Source:European Journal of Medical Genetics
Page Range:201-203
Date:July 2010
Official Publication:https://doi.org/10.1016/j.ejmg.2010.03.008
PubMed:View item in PubMed

Repository Staff Only: item control page

Open Access
MDC Library