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Disease Markers
Volume 2018, Article ID 9749457, 6 pages
Research Article

Mitochondrial Genome Mutations Associated with Myocardial Infarction

1Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, Moscow 125315, Russia
2Laboratory of Medical Genetics, National Medical Research Center of Cardiology, Moscow 121552, Russia
3Department of Genetics, Southern Federal University, Rostov-on-Don 344006, Russia
4Institute for Atherosclerosis Research, Skolkovo Innovation Center, Moscow 121609, Russia

Correspondence should be addressed to Margarita A. Sazonova; moc.liamg@avonozasaatiragram

Received 22 September 2017; Revised 8 December 2017; Accepted 23 January 2018; Published 18 February 2018

Academic Editor: Zhongjie Shi

Copyright © 2018 Margarita A. Sazonova et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.