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Single nucleotide polymorphism rs527236194 of the cytochrome B gene (MT-CYB) is associated with alterations in sperm parameters

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Abstract

Background

The mitochondrial genome is substantially susceptible to mutations and has high polymorphism due to structural features, location, and lack of recombinant variability, as its inheritance is strictly maternal. All of these events can be accompanied by the accumulation of mitochondrial single nucleotide polymorphisms (mtSNPs) in the sperm. The aim of this research was to analyze the influence of mutations in the MT-CYB gene on sperm quality.

Methods and results

We conducted a case‒control study to identify mutations in the mitochondrial cytochrome B (MT-CYB) gene in men with asthenoteratozoospermia (89 cases) and oligoasthenoteratozoospermia (65 cases). The comparison group consisted of 164 fertile men. Somatic cell lysis followed by mtDNA extraction was conducted to analyze three mtDNA polymorphisms, rs28357373 (T15629C (Leu295=), rs527236194 (T15784C (p.Pro346=), rs2853506 (A15218G, p.Thr158Ala). Detection and genotyping of polymorphic loci in the MT-CYB gene was performed using the TaqMan allelic discrimination assay. To verify mutations in the MT-CYB gene, automated Sanger DNA sequencing was used. We found that rs527236194 was associated with asthenoteratozoospermia. rs28357373 in the MT-CYB gene did not show any polymorphism in the analyzed groups, which indicates a rare frequency of the TT genotype in our region. Rs28357373 and rs2853506 are not associated with male sperm abnormalities in the Volga-Ural region.

Conclusion

The association of the rs527236194 polymorphic variant with sperm parameter alterations suggests its role in the pathophysiology of male infertility and requires further investigation in larger samples.

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Data Availability

The allelic discrimination data may be provided upon request to the corresponding author.

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Funding

This study was partially funded by the Bashkir State Medical University Strategic Academic Leadership Program (PRIORITY-2030).

Author information

Authors and Affiliations

  1. Medical Center “Family”, Ufa, 450054, Russia

    Yulia Yu. Gromenko

  2. Bashkir State Medical University, Ufa, 450008, Russia

    Yulia Yu. Gromenko, Irina R. Gilyazova, Elmira F. Galimova, Shamil N. Galimov & Valentin N. Pavlov

  3. Department of Human Anatomy and Histology, I.M. Sechenov First Moscow State Medical University (Sechenov University, 8/2 Trubetskaya str, Moscow, 119991, Russian Federation

    Kamil S. Galimov, Kirill V. Bulygin, Peter F. Litvitskiy & Gennadii A. Piavchenko

  4. M.V. Lomonosov Moscow State University, Moscow, 119991, Russia

    Kirill V. Bulygin

  5. Moscow University for Industry and Finance «Synergy», Moscow, 125190, Russia

    Sergey N. Ryagin

Authors
  1. Yulia Yu. Gromenko
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  2. Kamil S. Galimov
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  3. Irina R. Gilyazova
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  4. Elmira F. Galimova
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  7. Shamil N. Galimov
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  8. Peter F. Litvitskiy
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Corresponding author

Correspondence to Gennadii A. Piavchenko.

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Ethical approval

The study was approved by the Local Ethics Committee of Bashkir State Medical University (Protocol No. 8, Dec 14, 2022). The study was carried out in accordance with the principles of the Declaration of Helsinki.

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Gromenko, Y.Y., Galimov, K.S., Gilyazova, I.R. et al. Single nucleotide polymorphism rs527236194 of the cytochrome B gene (MT-CYB) is associated with alterations in sperm parameters. Mol Biol Rep 50, 10131–10136 (2023). https://doi.org/10.1007/s11033-023-08849-9

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