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Sazonova et al. Vessel Plus 2019;3:5 I http://dx.doi.org/10.20517/2574-1209.2018.56 Page 7 of 9

deficit in the mitochondria and cells of humans. At the same time, two other mutations (m.3336T>C and
m.14459G>A) of this enzyme seem to have a protective, stabilizing effect and positively affect mitochondria
and cardiac muscle cells. In our preliminary studies, it was found that mutation m.12315G>A, localized in
[29]
the transfer RNA-Leucine gene (recognition codon CUN), was associated with atherosclerosis . However,
in the present study it was found that this mutation has a protective effect on left ventricular hypertrophy. A
possible reason for this may be a difference in the mechanisms of the occurrance and development of these
pathologies.

It should be noted that single nucleotide substitutions which have a protective (antipathological) effect
on diseases are called “protective mutations”, but not polymorphisms. Since polymorphisms are neutral,
they exist in populations without influencing the occurrence and development of diseases. In addition,
polymorphisms do not have a protective effect in various pathologies. Therefore, the name “protective
(antipathological) mutations” seems to us more correct.

It is necessary to say that in literary sources there are very few studies that have investigated the linkage of
[21]
mitochondrial genome mutations with LVH. In particular, in the article of Zhu et al. the association of
[22]
mutation m.4401A>G with left ventricular hypertrophy was found. In a research work by Govindaraj et al.
heteroplasmic mutations m.4797C>M and m.8728T>Y MT-tRNA, were found to be associated with
[23]
hypertrophic cardiomyopathy. In the article by Bates et al. the association of mtDNA mutation m.3243A>G
with concentric hypertrophic remodelling and subendocardial dysfunction was studied. In none of such
studies the association of the heteroplasmy level of the detected by us mtDNA mutations with left ventricular
hypertrophy was analyzed.

In conclusion, five mutations of the mitochondrial genome associated with left ventricular hypertrophy
were found in the present study. They can be used for molecular genetic assessment of the predisposition of
individuals to the occurrence of LVH, family analysis and gene therapy of this pathology.

DECLARATIONS
Authors’ contributions
Conception, design and statistical analysis: Sazonova MA
Pyrosequencing of PCR fragments: Sazonova MA, Sinyov VV
PCR: Ryzhkova AI, Khasanova ZB
DNA extraction: Sazonova MD
Administrative and material support: Sobenin IA

Availability of data and materials
The data used to support the findings of this study are available from the corresponding author upon
request.

Financial support and sponsorship
This work was supported by the Russian Foundation for Basic Research (Grant #19-015-00479)

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
The study was carried out in accordance with the Declaration of Helsinki. The study protocol was inspected
and approved by the Ethics Committee of the National Medical Research Center of Cardiology. Each study