The Role of Mitochondrial DNA ORIB Polymorphism in Metabolic Syndrome

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 (T...

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Published in:Biochemistry (Moscow). Supplement. Series B, Biomedical chemistry Biomedical chemistry, 2018, Vol.12 (1), p.59-65
Main Authors: Skuratovskaia, D. A., Sofronova, J. K., Zatolokin, P. A., Vasilenko, M. A., Litvinova, L. S., Mazunin, I. O.
Format: Article
Language:English
Subjects:
Bioorganic Chemistry
Blood
Chemistry
Chemistry and Materials Science
Copy number
Diabetes mellitus
Diabetes mellitus (non-insulin dependent)
Insulin
Leukocytes
Medicinal Chemistry
Metabolic disorders
Metabolic syndrome
Mitochondrial DNA
Polymerase chain reaction
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Summary: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.
ISSN:1990-7508
1990-7516
DOI:10.1134/S1990750818010109