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Page 6 of 9 Sazonova et al. Vessel Plus 2019;3:5 I http://dx.doi.org/10.20517/2574-1209.2018.56

Table 4. Spearman correlation analysis of 11 mtDNA mutations with left ventricular hypertrophy
Mutations Spearman correlation coefficient Significance
m.652insG -0.036 0.357
m.5178C>A 0.114 0.038 a
m.3336T>C -0.126 0.014 a
m.14459G>A -0.082 0.082 b
m.652delG 0.065 0.214
m.14846G>A -0.028 0.427
m.1555A>G 0.096 0.064 b
m.15059G>A 0.064 0.236
m.3256C>T 0.057 0.258
m.12315G>A -0.122 0.017 a
m.13513G>A -0.034 0.369
a b
P ≤ 0.05; P ≤ 0.1
and conventionally healthy participants was not statistically significant. 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 researchers [24,28-31] .
Since LVH has common risk factors with atherosclerosis, it was decided to analyze the relationship of these
mutations to mtDNA with left ventricular hypertrophy.

The results of this analysis are presented in Table 4.

The direction of the linkage of mtDNA mutations with left ventricular hypertrophy was detected using the
coefficient of correlation. If the Spearman correlation coefficient was positive, the investigated mutation
was associated with left ventricular hypertrophy. If the Spearman correlation coefficient was negative, the
mutation was associated with the absence of left ventricular hypertrophy.

According to the obtained results, mtDNA mutation m.5178C>A was significantly associated with LVH.
Single nucleotide replacement m.1555A>G was associated with left ventricular hypertrophy at the level of
significance P ≤ 0.1. It showed a tendency to a positive correlation with LVH. Meanwhile 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 left ventricular hypertrophy at the significance level P ≤ 0.1.
Mutation m.14459G>A showed a tendency to negative correlation with LVH.

DISCUSSION
Due to the fact that several mitochondria can be found in a human cell, and several copies of the
mitochondrial genome can be found in the mitochondria, in particular the level of mtDNA mutations in
the mitochondrial genome was analyzed. The presence of heteroplasmy threshold level of a mitochondrial
genome mutation may be associated with the occurrence of the disease. Our previous article was devoted
to the detection of threshold heteroplasmy level of mitochondrial genome 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
[25]
m.13513G>A, which are associated with atherosclerosis and its risk factors .
Mutations m.5178C>A and m.1555A>G can be used to assess the molecular genetic predisposition of
individuals to occurrence of left ventricular hypertrophy. They can also be used for family analysis of this
pathology. Mutations m.12315G>A, m.3336T>C and m.14459G>A could be used in the development of LVH
gene therapy methods.

It is noteworthy that one of the mutations of the mitochondrial genome (m.5178C>A) can lead to a defect in
the respiratory chain enzyme (NADH dehydrogenase), leading to a decrease in ATP synthesis and an energy