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Oxidative Medicine and Cellular Longevity
Volume 2017, Article ID 6934394, 7 pages
https://doi.org/10.1155/2017/6934394
Research Article

Role of Mitochondrial Genome Mutations in Pathogenesis of Carotid Atherosclerosis

1Russian Cardiology Research and Production Complex, Moscow 121552, 15a, 3rd Cherepkovskaya street, Moscow 121552, Russia
2Institute of General Pathology and Pathophysiology, Russian Academy of Medical Sciences, Moscow 125315, 8, Baltiyskaya st., Moscow 125315, Russia
3K.I. Skryabin Moscow State Academy of Veterinary Medicine and Biotechnology-MVA, 23, Skryabina st., Moscow 109472, Russia
4Department of Genetics, Southern Federal University, 105/42, B. Sadovaya st., Rostov-on-Don, 344006, Russia
5Institute for Atherosclerosis Research, 121609, Skolkovo Innovative Centre, Moscow Region, Skolkovo, Novaya st., Moscow, Russia

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

Received 3 March 2017; Revised 10 May 2017; Accepted 15 June 2017; Published 25 July 2017

Academic Editor: Giuseppe Cirillo

Copyright © 2017 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.

Abstract

Mutations of mtDNA, due to their higher frequency of occurrence compared to nuclear DNA mutations, are the most promising biomarkers for assessing predisposition of the occurrence and development of atherogenesis. The aim of the present article was an analysis of correlation of several mitochondrial genome mutations with carotid atherosclerosis. Leukocytes from blood of study participants from Moscow polyclinics were used as research material. The sample size was 700 people. The sample members were diagnosed with “atherosclerosis” on the basis of ultrasonographic examination and biochemical and molecular cell tests. DNA was isolated from blood leukocyte samples of the study participants. PCR fragments of DNA, containing the region of 11 investigated mutations, were pyrosequenced. The heteroplasmy level of these mutations was detected. Statistical analysis of the obtained results was performed using the software package SPSS 22.0. According to the obtained results, an association of mutations m.652delG, m.3336C>T, m.12315G>A, m.14459G>A m.15059G>A with carotid atherosclerosis was found. These mutations can be biomarkers for assessing predisposition to this disease. Additionally, two single nucleotide substitutions (m.13513G>A and m.14846G>A), negatively correlating with atherosclerotic lesions, were detected. These mutations may be potential candidates for gene therapy of atherosclerosis and its risk factors.