Different genes are involved in the development of pathology and formation the metabolic syndrome (MS) phenotype. In the literature, there is a data connection to the site oriB polymorphisms of mitochondrial DNA (mtDNA), known as 16184-16193 polycytosine tract, with insulin resistance, type 2 diabetes (T2DM) and other metabolic abnormalities in different ethnic populations. It is supposed that for certain polymorphisms at this site decreases mtDNA copy number in the cells. In this study, we have identified different allelic variants of the mtDNA oriB site in MS patients (n=106) and healthy individuals (n=71) using capillary sequencing, and determined the amount of mtDNA copy blood leukocytes by droplet digital polymerase chain reaction (ddPCR). The continuous polycytosine tract was significantly more common in MS patients, and such a link was particularly strong in MS patients with type 2 diabetes (p<0.01). No significant correlation has been found between mtDNA copy number and the oriB site variants, but in general there is a tendency to decreased mtDNA copy number in MS patients.
Keywords: mitochondrial DNA polymorphism, the mitochondria, the metabolic syndrome, diabetes type 2
Skuratovskaia D.A. et al. The association of the mitochondrial DNA oriB variants with metabolic syndrome // Biomeditsinskaya khimiya. - 2017. - V. 63. -N 6. - P. 533-538.
Skuratovskaia D.A. et al., "The association of the mitochondrial DNA oriB variants with metabolic syndrome." Biomeditsinskaya khimiya 63.6 (2017): 533-538.
Skuratovskaia, D. A., Sofronova, J. K., Zatolokin, P. A., Vasilenko, M. A., Litvinova, L. S., Mazunin, I. O. (2017). The association of the mitochondrial DNA oriB variants with metabolic syndrome. Biomeditsinskaya khimiya, 63(6), 533-538.
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