ISSN 1022-7954, Russian Journal of Genetics, 2016, Vol. 52, No. 8, pp. 847–852. © Pleiades Publishing, Inc., 2016.
Original Russian Text © V.V. Sinyov, M.M. Chicheva, V.A. Barinova, A.I. Ryzhkova, R.I. Zilinyi, V.P. Karagodin, A.Yu. Postnov, I.A. Sobenin, A.N. Orekhov, M.A. Sazonova, 2016,
published in Genetika, 2016, Vol. 52, No. 8, pp. 951–957.
The Heteroplasmy Level of Some Mutations in Gene MT-CYB
among Women with Asymptomatic Atherosclerosis
V. V. Sinyov
*, M. M. Chicheva
, V. A. Barinova
, A. I. Ryzhkova
, R. I. Zilinyi
V. P. Karagodin
, A. Yu. Postnov
, I. A. Sobenin
, A. N. Orekhov
b, c, f
, and M. A. Sazonova
Russian Cardiology Research and Production Complex, Moscow, Russia 121552
Research Institute of General Pathology and Pathophysiology, Moscow, 125315 Russia
Skryabin Moscow State Academy of Veterinary Medicine and Biotechnology, Moscow, 109472 Russia
University of Debrecen Medical and Health Science Centre, Debrecen, 4012 Hungary
Plekhanov Russian University of Economics, Moscow, 117997 Russia
Institute for Atherosclerosis Research, Skolkovo Innovative Centre, Moscow oblast, Skolkovo, 121609 Russia
Received September 7, 2015
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 cer-
tain 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 muta-
tions 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 rea-
son 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 muta-
tions 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.
Keywords: atherosclerotic disease, mitochondrial genome, intima-media thickness, cytochrome B gene, sin-
gle nucleotide substitution
Atherosclerosis is a polygenic socially significant
disease whose risk factors include coronary heart dis-
ease, diabetes, hypertension, and myocardial infarc-
tion . Unfortunately, early stages of atherosclerosis
are asymptomatic and it is very difficult to recognize
this disease using classical clinical techniques .
People predisposed to atherosclerosis can be identified
with the help of molecular-genetic markers that will
make it possible to assess the chances of development of
atherosclerotic lesions of varying severity [3–5].
The most promising may be the search for markers
of atherosclerosis among the mitochondrial genome
mutations. Because of the instability of mitochondrial
DNA, mutations often occur during human life.
According to the literature, somatic mutations are
associated with various diseases [6–16].
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 [17–21]. 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,
since these mutations affect the mitochondrial respi-
ratory chain enzyme. Defects in the given chain may
be the reason for the launch of pathogenic mecha-
nisms in the human body.
It should be noted that, according to the literature,
mutations m.14846G>A, m.15762G>A, m.15084G>A,
and m.15059G>A of the cytochrome B gene are asso-
ciated with mitochondrial myopathies, myoglobin-
uria, and exercise intolerance [6–8].