The heteroplasmy level of some mutations in gene MT-CYB among women with asymptomatic atherosclerosis

• Published in: Russian journal of genetics 2016-08, Vol.52 (8), p.847-852
• Main Authors: Sinyov, V. V., Chicheva, M. M., Barinova, V. A., Ryzhkova, A. I., Zilinyi, R. I., Karagodin, V. P., Postnov, A. Yu, Sobenin, I. A., Orekhov, A. N., Sazonova, M. A.
• Format: Article
• Language: English
• Subjects: Animal Genetics and Genomics; Biomedical and Life Sciences; Biomedicine; Human Genetics; Microbial Genetics and Genomics
• ISSN: 1022-7954; 1608-3369
• DOI: 10.1134/S1022795416080123

Atherosclerosis is a polygenic socially significant disease whose risk factors include coronary heart disease, diabetes, hypertension, and myocardial infarction. According to the literature, mutations m.14846G>A (G34S), m.15762G>A (G339Q), m.15084G>A (W113Ter), and m.15059G>A (G190Ter) of cytochrome B gene ( MT-CYB ) are associated with mitochondrial myopathies, myoglobinuria, and exercise intolerance. Preliminary studies carried out by the authors made it possible to discover an association of certain mitochondrial genome mutations with atherosclerotic lesions of aortic intima in people who died as a result of an accident or sudden death. The most interesting seemed to be the data on the association of mutations m.14846G>A and m.15059G>A of the cytochrome B gene with lipofibrous aortic plaques, because these mutations affect the mitochondrial respiratory chain enzyme. Defects in the given chain may be the reason for the launch of pathogenic mechanisms in the human body. Owing to the fact that mutations in the mitochondrial genome are inherited by the maternal type, it was decided to analyze cytochrome B gene mutations in a sample of female volunteers from Moscow oblast. According to the findings, mutations m.14846G>A and m.15059G>A are highly significantly associated with atherosclerotic lesions of the carotid arteries: m.14846G>A is antiatherogenic and m.15059G>A is proatherogenic.