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Sazonova et al. Vessel Plus 2019;3:8 Vessel Plus
DOI: 10.20517/2574-1209.2019.01

Original Article Open Access

Mitochondrial mutations associated with cardiac
angina

Margarita A. Sazonova , Anastasia I. Ryzhkova , Vasily V. Sinyov , Marina D. Sazonova , Nadezhda N.
1
1,2
1
2
Nikitina , Tatiana P. Shkurat , Igor A. Sobenin , Alexander N. Orekhov 1,4
1,2
3
2
1 Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, Moscow 125315, Russian Federation.
2 Laboratory of Medical Genetics, National Medical Research Center of Cardiology, Moscow 121552, Russian Federation.
3 Department of Genetics, Southern Federal University, Rostov-on-Don 344006, Russian Federation.
4 Institute for Atherosclerosis Research, Skolkovo Innovation Centre, Skolkovo, Moscow 121609, Russian Federation.
Correspondence to: Dr. Margarita A. Sazonova, Laboratory of Angiopathology, Institute of General Pathology and
Pathophysiology, 8 Baltiyskaya Str., Moscow 125315, Russian Federation. E-mail: margaritaasazonova@gmail.com
How to cite this article: Sazonova MA, Ryzhkova AI, Sinyov VV, Sazonova MD, Nikitina NN, Shkurat TP, Sobenin IA, Orekhov AN.
Mitochondrial mutations associated with cardiac angina. Vessel Plus 2019;3:8. http://dx.doi.org/10.20517/2574-1209.2019.01

Received: 1 Dec 2018 First Decision: 18 Dec 2018 Revised: 19 Jan 2019 Accepted: 20 Jan 2019 Published: 19 Mar 2019

Science Editor: Alexander N. Orekhov Copy Editor: Cai-Hong Wang Production Editor: Huan-Liang Wu

Abstract
Aim: Cardiac angina is a disease in which discomfort or retrosternal pain may occur. Atherosclerosis of coronary arteries
is one of the main risk factors for cardiac angina. The aim of the investigation was to analyze the association of 11
mitochondrial genome mutations with cardiac angina. In our preliminary studies an association of these mutations with
atherosclerosis, a risk factor for cardiac angina, was found.

Methods: We used samples of white blood cells collected from 192 patients with cardiac angina and 201 conventionally
healthy study participants. DNA from blood leukocyte samples was isolated using a phenol-chloroform method.
DNA amplicons containing the investigated regions of 11 mitochondrial genome mutations (m.12315G>A, m.652delG,
m.5178C>A, m.14459G>A, m.3336T>C, 652insG, m.3256C>T, m.1555A>G, m.15059G>A, m.13513G>A, m.14846G>A)
were pyrosequenced. The heteroplasmy level of mitochondrial DNA (mtDNA) mutations was analyzed using a method
developed by our laboratory on the basis of pyrosequencing technology.

Results: According to the obtained data, three mitochondrial mutations of human genome correlated with cardiac angina.
A positive correlation was observed for mutation m.14459G>A (P ≤ 0.05). One single nucleotide substitution m.5178C>A
(P ≤ 0.1) had a trend for positive correlation. A negative correlation for mutation m.15059G>A with cardiac angina (P ≤
0.05) was found.

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