Mutation of MEF2A in an Inherited Disorder with Features of Coronary Artery Disease
摘要：
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.
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关键词：
Animals Humans Rats Muscle, Smooth Coronary Vessels Chromosomes, Human, Pair 15 Cell Nucleus Myocardial Infarction Transcription Factors Myogenic Regulatory Factors
DOI：
10.1126/science.1088477
被引量：
年份：
2003
BMJ
万方医学
掌桥科研
dx.doi.org
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