Key result
Mitochondrial mutation m.5178C>A is linked to higher MI risk, while m.14846G>A correlates with lower risk.
Why the study?
The association of mitochondrial DNA mutations with myocardial infarction and atherosclerotic lesions in human arteries was previously detected but requires further investigation.
Are specific mitochondrial genome mutations associated with myocardial infarction?
Case-Control (n=464)
Are specific mitochondrial genome mutations associated with myocardial infarction?
Specific mitochondrial DNA mutations (m.5178C>A and m.14846G>A) are significantly associated with myocardial infarction, highlighting potential novel biomarkers or therapeutic targets.
Answers are grounded in this paper and cite their sources.
Certain mtDNA mutations in leukocytes were associated with MI; leaves open their value as biomarkers or model targets.
Myocardial infarction is one of the clinical manifestations of coronary heart disease. In some cases, the cause of myocardial infarction may be atherosclerotic plaques which occurred in the human aorta. The association of mtDNA mutations with atherosclerotic lesions in human arteries was previously detected by our research group. In this study, we used samples of white blood cells collected from 225 patients with myocardial infarction and 239 control persons with no health complaints. DNA was isolated from the blood leukocyte samples. Then, PCR fragments of DNA were obtained. They contained the investigated regions of 11 mitochondrial genome mutations (m.5178C>A, m.3336T>C, m.652delG, m.12315G>A, m.14459G>A, m.652insG, m.14846G>A, m.13513G>A, m.1555A>G, m.15059G>A, m.3256C>T). According to the obtained results, three mutations of the human mitochondrial genome correlated with myocardial infarction. A positive correlation was observed for mutation m.5178C>A. At the same time, a highly significant negative correlation with myocardial infarction was observed for mutation m.14846G>A. One single-nucleotide substitution of m.12315G>A had a trend towards negative correlation. These mutations can potentially be useful for creating molecular/cellular models for studying the mechanisms of myocardial infarction and designing novel therapies. Moreover, these mutations can possibly be used for diagnostic purposes.
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Sazonova et al. (2018) conducted a case-control in Myocardial infarction (n=464). Mitochondrial genome mutations vs. Healthy controls was evaluated on Correlation with myocardial infarction. Mitochondrial genome mutation m.5178C>A positively correlated with myocardial infarction, whereas m.14846G>A showed a highly significant negative correlation.
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