We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Mutation of MEF2A in an inherited disorder with features of coronary artery disease.
- Authors
Wang, Lejin; Fan, Chun; Topol, Sarah E; Topol, Eric J; Wang, Qing
- Abstract
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 of CAD/MI (adCAD1) that is caused by the deletion of seven amino acids in transcription factor MEF2A. The deletion disrupts nuclear localization of MEF2A, reduces MEF2A-mediated transcription activation, and abolishes synergistic activation by MEF2A and by the transcription factor GATA-1 through a dominant-negative mechanism. The MEF2A protein demonstrates strong expression in the endothelium of coronary arteries. These results identify a pathogenic gene for a familial vascular disease with features of CAD and implicate the MEF2A signaling pathway in the pathogenesis of CAD/MI.
- Publication
Science (New York, N.Y.), 2003, Vol 302, Issue 5650, p1578
- ISSN
1095-9203
- Publication type
Journal Article
- DOI
10.1126/science.1088477