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.
V razvitii metabolicheskogo sindroma (MS) prinimaiut uchastie mnogie geny. V literature est' dannye o sviazi polimorfizma v saĭte oriB mitokhondrial'noĭ DNK (mtDNK), tak nazyvaemyĭ politsitozinovyĭ trakt, s razvitiem rezistentnosti k insulinu, sakharnogo diabeta 2-go tipa (SD2) i drugikh metabolicheskikh narusheniĭ v razlichnykh étnicheskikh populiatsiiakh. Sushchestvuet predpolozhenie ob assotsiatsii opredelennykh polimorfizmov v étom saĭte s kolichestvom kopiĭ mtDNK v kletke. V dannoĭ rabote identifitsirovany razlichnye allel'nye varianty saĭta oriB mtDNK u patsientov s MS (n=106) i uslovno zdorovykh donorov (n=71) s pomoshch'iu kapilliarnogo sekvenirovaniia. Kolichestvo kopiĭ mtDNK v leĭkotsitakh krovi opredeliali metodom kapel'noĭ tsifrovoĭ polimeraznoĭ tsepnoĭ reaktsii (ktsPTsR). Vyiavleno, chto variant nepreryvnogo politsitozinogo trakta dostoverno chashche vstrechaetsia u bol'nykh MS s SD2 (p<0,01). V tselom, soderzhanie kopiĭ mtDNK v leĭkotsitakh krovi bol'nykh MS bylo nizhe po sravneniiu s kontrolem. Nami ne obnaruzheno vzaimosviazi mezhdu variabel'nost'iu saĭta oriB i kolichestvom kopiĭ mtDNK.
Keywords: diabetes type 2; mitochondrial DNA polymorphism; the metabolic syndrome; the mitochondria.