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Dis Markers. 2018 Feb 18;2018:9749457. doi: 10.1155/2018/9749457. eCollection 2018.

Mitochondrial Genome Mutations Associated with Myocardial Infarction.

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Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, Moscow 125315, Russia.
Laboratory of Medical Genetics, National Medical Research Center of Cardiology, Moscow 121552, Russia.
Department of Genetics, Southern Federal University, Rostov-on-Don 344006, Russia.
Institute for Atherosclerosis Research, Skolkovo Innovation Center, Moscow 121609, Russia.


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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