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Sazonova et al. Vessel Plus 2019;3:5 Vessel Plus
DOI: 10.20517/2574-1209.2018.56

Original Article Open Access

MtDNA mutations linked with left ventricular
hypertrophy

Margarita A. Sazonova , Vasily V. Sinyov , Anastasia I. Ryzhkova , Marina D. Sazonova ,
2
2
1,2
1
Zukhra B. Khasanova , Igor A. Sobenin 1,2
1
1 Laboratory of Medical Genetics, National Medical Research Center of Cardiology, Moscow 121552, The Russian Federation.
2 Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, Moscow 125315, The Russian Federation.
Correspondence to: Dr. Margarita A. Sazonova, Laboratory of Medical Genetics, National Medical Research Center of Cardiology,
15a 3rd Cherepkovskaya Str, Moscow 121552, The Russian Federation. E-mail: margaritaasazonova@gmail.com
How to cite this article: Sazonova MA, Sinyov VV, Ryzhkova AI, Sazonova MD, Khasanova ZB, Sobenin IA. MtDNA mutations
linked with left ventricular hypertrophy. Vessel Plus 2019;3:5. http://dx.doi.org/10.20517/2574-1209.2018.56
Received: 24 July 2018 First Decision: 27 Nov 2018 Revised: 11 Jan 2019 Accepted: 16 Jan 2019 Published: 26 Feb 2019

Science Editor: Igor A. Sobenin Copy Editor: Cai-Hong Wang Production Editor: Huan-Liang Wu

Abstract
Aim: In left ventricular hypertrophy (LVH), the heart muscle thickens. One third of individuals with LVH never complain of
heart problems. However, such patients have a high risk of sudden death. LVH can be caused by arterial atherosclerotic
lesions. The linkage of mtDNA mutations 652insG, m.5178C>A, m.3336T>C, m.14459G>A, 652delG, m.14846G>A,
m.1555A>G, m.15059G>A, m.3256C>T, m.12315G>A and m.13513G>A with atherosclerosis was described earlier by our
laboratory. The aim of the study was to analyze the linkage of these mtDNA mutations with LVH.

Methods: DNA from white blood cells was isolated using a phenol-chloroform method. PCR-fragments of DNA
contained the region of the investigated mutations. The heteroplasmy level of mtDNA mutations was analyzed using a
pyrosequencing-based method developed by our laboratory.

Results: We investigated two groups of individuals. One hundred and ninety-four patients with LVH. Two hundred and
ten were conventionally healthy. It was found that mtDNA mutation m.5178C>A was significantly associated with LVH.
Single nucleotide replacement m.1555A>G was associated with LVH at the level of significance P ≤ 0.1. At the same
time m.12315G>A and m.3336T>C were significantly associated with the absence of this pathology. Single nucleotide
replacement m.14459G>A was associated with the absence of LVH at the significance level P ≤ 0.1.

Conclusion: MtDNA mutations m.5178C>A and m.1555A>G can be used for molecular genetic assessment of the
predisposition of individuals to the occurrence of left ventricular hypertrophy. They can also be used for the family
analysis of this pathology. Mutations m.12315G>A, m.3336T>C and m.14459G>A can be used in the development of LVH
gene therapy methods.

© The Author(s) 2019. Open Access This article is licensed under a Creative Commons Attribution 4.0
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