The Role of Mitochondrial DNA ORIB Polymorphism in Metabolic Syndrome

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

Research output: Contribution to journalArticlepeer-review


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 OpenSPiltSPi 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.

Original languageEnglish
Pages (from-to)59-65
Number of pages7
JournalBiochemistry (Moscow) Supplement Series B: Biomedical Chemistry
Issue number1
Publication statusPublished - 1 Jan 2018
Externally publishedYes


  • metabolic syndrome
  • mitochondria
  • mitochondrial DNA polymorphism


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