MEF2A sequence variants and coronary artery disease: a change of heart?
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 15841171.
- Also identified by PMC identifier 1070431.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Rare mutations in MEF2A have been proposed as a cause of coronary artery disease (CAD) and myocardial infarction (MI). In this issue of the JCI, Pennacchio and colleagues report sequencing MEF2A in 300 patients with premature CAD and in controls. Only 1 CAD patient was found to carry a missense mutation not found in controls. The specific 21-bp deletion in MEF2A previously proposed as causal for CAD and/or MI was observed in unaffected individuals and did not segregate with CAD in families. These results do not support the hypothesis that mutations in MEF2A are a cause of CAD and/or MI but do illustrate general principles regarding the difficulty of connecting genetic variation to common diseases.
Medical subject headings
- Coronary Artery Disease
- DNA-Binding Proteins
- Sequence Analysis, DNA
- Transcription Factors