Mutation of MEF2A in an Inherited Disorder with Features of Coronary Artery Disease

• DOI: 10.1126/science.1088477
• Publication Date: 2003-11-28T15:38:31Z
• Authors: Lejin Wang; Chun Fan; Sarah E. Topol; Eric J. Topol; Qing Wang
• Keywords: Pathogenesis; Transcription

The early genetic pathway(s) triggering the pathogenesis of coronary artery disease (CAD) and myocardial infarction (MI) remain largely unknown. Here, we describe an autosomal dominant form CAD/MI (adCAD1) that is caused by deletion seven amino acids in transcription factor MEF2A. disrupts nuclear localization MEF2A, reduces MEF2A-mediated activation, abolishes synergistic activation MEF2A GATA-1 through a dominant-negative mechanism. protein demonstrates strong expression endothelium arteries. These results identify pathogenic gene for familial vascular with features CAD implicate signaling pathway CAD/MI.