Editors' ChoicePhysiology

Genetics of a Coronary Vascular Disorder

Science's STKE  02 Dec 2003:
Vol. 2003, Issue 211, pp. tw469
DOI: 10.1126/stke.2112003tw469

The genetic factors influencing coronary artery disease (CAD) remain poorly defined. Wang et al. studied a large family with high incidence of a vascular condition resembling CAD, which in most of the cases led to myocardial infarction. A genome-wide linkage analysis identified an autosomal dominant locus that included MEF2A, an endothelial transcription factor that is thought to participate in vascular development. A deletion-mutation within MEF2A that conferred altered cellular distribution of the protein specifically segregated with genes of family members having the CAD-like vascular condition. It remains to be seen whether the MEF2A pathway plays a role in the common form of CAD resulting from atherosclerosis.

L. Wang, C. Fan, S. E. Topol, E. J. Topol, Q. Wang, Mutation of MEF2A in an inherited disorder with features of coronary artery disease. Science 302, 1578-1581 (2003). [Abstract] [Full Text]