Jun 16, 2010

Structural changes in exon 11 of MEF2A are not related to sporadic coronary artery disease in Han Chinese population

European Journal of Clinical Investigation
Da-Peng DaiJian-Ping Cai

Abstract

A mutation in MEF2A (myocyte enhancer factor-2A) had been reported to be the first gene linked directly to coronary artery disease (CAD). However, an opposing opinion was proposed recently that MEF2A mutations are not a common cause of sporadic CAD. In this study, we screened exon 11 of the MEF2A gene in people of the Han nationality in China and finished some functional analysis of found variations. A gene structural investigation of MEF2A in 257 CAD patients and 154 control individuals were developed in this study. Subsequently, typical MEF2A variations were cloned and expressed in HeLa or 293T cell line to illustrate whether found structure changes could influence the main biological functions of these proteins. At last, another set of gene structural screen was initialized to get more reliable conclusions. Totally 16 different variations were detected in exon 11 of this gene in the first set of gene structural screen. By cloning and expressing typical MEF2A proteins in cultured cells, all the acquired MEF2A variations had transcriptional activation capabilities and subcellular localization patterns similar to those of the wild-type protein. Further larger scale genetic screening also revealed that the reported genetic varia...Continue Reading

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  • Citations5

Mentioned in this Paper

Establishment and Maintenance of Localization
Exons
Coronary Artery Disease
Muscle Cells
Genetic Screening (Procedure)
MEF2A gene
Candidate Gene Identification
MEF2A protein, human
Coronary Arteriosclerosis
Myocyte enhancer factor 2C

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