Email this article The heteroplasmy level of some mutations in gene MT-CYB among women with asymptomatic atherosclerosis
- Authors: Sinyov V.V.1, Chicheva M.M.2, Barinova V.A.1, Ryzhkova A.I.2,3, Zilinyi R.I.4, Karagodin V.P.5, Postnov A.Y.1, Sobenin I.A.1,2, Orekhov A.N.2,3,6, Sazonova M.A.1,2
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Affiliations:
- Russian Cardiology Research and Production Complex
- Research Institute of General Pathology and Pathophysiology
- Skryabin Moscow State Academy of Veterinary Medicine and Biotechnology
- University of Debrecen Medical and Health Science Centre
- Plekhanov Russian University of Economics
- Institute for Atherosclerosis Research
- Issue: Vol 52, No 8 (2016)
- Pages: 847-852
- Section: Human Genetics
- URL: https://journal-vniispk.ru/1022-7954/article/view/187840
- DOI: https://doi.org/10.1134/S1022795416080123
- ID: 187840
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Abstract
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.
About the authors
V. V. Sinyov
Russian Cardiology Research and Production Complex
Author for correspondence.
Email: centaureaceanus@mail.ru
Russian Federation, Moscow, 121552
M. M. Chicheva
Research Institute of General Pathology and Pathophysiology
Email: centaureaceanus@mail.ru
Russian Federation, Moscow, 125315
V. A. Barinova
Russian Cardiology Research and Production Complex
Email: centaureaceanus@mail.ru
Russian Federation, Moscow, 121552
A. I. Ryzhkova
Research Institute of General Pathology and Pathophysiology; Skryabin Moscow State Academy of Veterinary Medicine and Biotechnology
Email: centaureaceanus@mail.ru
Russian Federation, Moscow, 125315; Moscow, 109472
R. I. Zilinyi
University of Debrecen Medical and Health Science Centre
Email: centaureaceanus@mail.ru
Hungary, Debrecen, 4012
V. P. Karagodin
Plekhanov Russian University of Economics
Email: centaureaceanus@mail.ru
Russian Federation, Moscow, 117997
A. Yu. Postnov
Russian Cardiology Research and Production Complex
Email: centaureaceanus@mail.ru
Russian Federation, Moscow, 121552
I. A. Sobenin
Russian Cardiology Research and Production Complex; Research Institute of General Pathology and Pathophysiology
Email: centaureaceanus@mail.ru
Russian Federation, Moscow, 121552; Moscow, 125315
A. N. Orekhov
Research Institute of General Pathology and Pathophysiology; Skryabin Moscow State Academy of Veterinary Medicine and Biotechnology; Institute for Atherosclerosis Research
Email: centaureaceanus@mail.ru
Russian Federation, Moscow, 125315; Moscow, 109472; Moscow oblast, Skolkovo, 121609
M. A. Sazonova
Russian Cardiology Research and Production Complex; Research Institute of General Pathology and Pathophysiology
Email: centaureaceanus@mail.ru
Russian Federation, Moscow, 121552; Moscow, 125315
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