Transcription Factor Mef2a Gene And Its Mutant In Vitro Activity

Coronary artery disease (CAD) is a leading cause of disability and death in the developed world.In many developing countries.including China,adverse changes in lifestyle that tend to accompany industrialization and urbanization may have increased the risk of vascular disease.CAD is a complex disease,which is believed to be caused by many genetic factors,environmental factors, and interactions among these factors.The studies of genetic factors of CAD have been a focus and contributed to the development in identifying the detailed molecular mechanisms by which disease-causing genes promote development of CAD.MEF2A,a member of transcription factors,has been identified as one disease-causing gene for familial CAD.The identification of the first disease-causing gene revealed a new signaling pathway for the pathogenesis of CAD.This discovery was selected as one of the American Heart Association's top 10 advances for 2004.On the other hand,some studies also reported a lack of critical MEF2A mutations in sporadic CAD cases and normal populations.So, the significance of MEF2A mutations in the development of CAD need to be reassessed.The purpose of the present study was to identify mutations in MEF2A in normal population and assess the significance of MEF2A mutations as genetic risk factor for CAD in Chinese northern population.We used single-stranded conformation polymorphism and DNA sequence analyses to detect the polymorphism in all exons of MEF2A in independent healthy Han population in Beijing area.It was shown that,except exon9 and exonll,no polymorphisms were detected in other exons.In exon9, polymorphic C1305T exists,which do not cause change in aa.We identified...