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The Role of Mitochondrial DNA ORIB Polymorphism in Metabolic Syndrome

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Abstract

The development of the metabolic syndrome (MS) involves many genes. Certain evidence exists in the literature on the association of polymorphism in the mitochondrial DNA (mtDNA) oriB site, also known as the polycytosine pathway, with the development of insulin resistance, type 2 diabetes mellitus (T2DM) and other metabolic disorders in various ethnic populations. It is suggested that certain polymorphisms at this site are associated with mtDNA copy number in the cell. In this study, using capillary sequencing, we have identified various allelic variants of the mtDNA oriB site in patients with MS (n = 106) and conditionally healthy donors (n = 71). The mtDNA copy number in blood leukocytes was determined by the droplet digital polymerase chain reaction (ddPCR). It has been shown that the variant of the continuous polycytosine tract is significantly more frequent in MS patients with T2DM (p < 0.01). In general, the mtDNA copy number of blood leukocytes was lower in MS patients than in controls. We did not find any correlations between the oriB site variability and the mtDNA copy number.

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Authors and Affiliations

  1. Immanuel Kant Baltic Federal University, ul. Alexandra Nevskoro 14, Kaliningrad, 236038, Russia

    D. A. Skuratovskaia, J. K. Sofronova, M. A. Vasilenko, L. S. Litvinova & I. O. Mazunin

  2. Regional Clinical Hospital of the Kaliningrad Region, ul. Klinicheskaya 74, Kaliningrad, 236019, Russia

    P. A. Zatolokin

Authors
  1. D. A. Skuratovskaia
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  2. J. K. Sofronova
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  3. P. A. Zatolokin
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  4. M. A. Vasilenko
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  5. L. S. Litvinova
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  6. I. O. Mazunin
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Corresponding author

Correspondence to I. O. Mazunin.

Additional information

Original Russian Text © D.A. Skuratovskaia, J.K. Sofronova, P.A. Zatolokin, M.A. Vasilenko, L.S. Litvinova, I.O. Mazunin, 2018, published in Biomeditsinskaya Khimiya.

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Skuratovskaia, D.A., Sofronova, J.K., Zatolokin, P.A. et al. The Role of Mitochondrial DNA ORIB Polymorphism in Metabolic Syndrome. Biochem. Moscow Suppl. Ser. B 12, 59–65 (2018). https://doi.org/10.1134/S1990750818010109

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  • DOI: https://doi.org/10.1134/S1990750818010109

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