MEF2A


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AcronymDefinition
MEF2AMocyte Enhancer Binding Factor-2A
References in periodicals archive ?
The phenotype of individuals that harbor the MEF2A mutation identified by Wang et al .
Identification of MEF2A mutations in families and patients with CAD and MI clearly links the MEF2 signaling pathway to an important human disease.
From 2005 to now, some data do not support a role for MEF2A in CAD patients from different country, included Iran, Japan, Italy, and Germany.
sup][1] Of 93 genes in the locus, the MEF2A gene was subjected to deep resequencing in family members as a plausible candidate gene, given its expression in embryonic coronary vasculature.
However, a large follow-up study attempting to identify additional deleterious mutations in MEF2A in sporadic cases of premature MI did not find any definitive mutations, but did succeed in finding the 21-bp mutation in three individuals who had not suffered MI.
Another group reported that the mutations of MEF2A exon 12 are implicated in premature CAD, suggesting a strong genetic component in the pathogenesis of premature CAD in the Chinese population.
How can we reconcile these results, in these controversial studies,[sup][6],[7],[8],[9],[10],[11],[12],[13],[14],[15],[16],[17] the 21-bp deletion was absent in unrelated individuals with normal angiograms, and was found to alter the ability of the MEF2A protein to activate transcription in vitro .
If the available evidence is not adequate to conclude that mutations in MEF2A play a causal role in CAD and/or MI, what general principles can we take away?
The genomic sequence of MEF2A gene is highly polymorphic.
Finally, it remains to be determined whether disruption of MEF2A function is unique to this particular pedigree or will prove to be more widely associated with CAD.
The significance of identification of MEF2A as the first disease-causing gene for CAD and MI is two-fold.