Identifies a mutation in the MEF2A gene as a cause of an inherited form of coronary artery disease and myocardial infarction, highlighting a novel genetic pathway in CAD pathogenesis.
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MEF2A deletion may underlie rare familial CAD/MI; hypothesis-generating for broader role and requires replication before clinical translation.
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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Wang et al. (2003) studied this question.
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