THE ROLE OF GENE POLYMORPHISMS IN THE FORMATION OF FOLATE CYCLE DISORDERS AND THEIR CONSEQUENCES IN WOMEN WITH POLYCYSTIC OVARY SYNDROME (literature review)

Abstract

Polycystic ovary syndrome (PCOS) is the most common endocrine reproductopathy, the relevance of which is constantly increasing. Today, it is believed that the formation of PCOS occurs against the background of multiple genetic and epigenetic changes, and special importance is attached to the folate pathway genes. In this review, an analysis of literary sources on the role of the most researched and clinically important polymorphic genes of the folate cycle was carried out. The significance assessment is given of the significance of a decrease in the activity of the enzymes of the folate cycle 5,10-methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR) in the presence of polymorphic variants of the genes that code for them (MTHFR allele 677T, MTHFR allele 1298C and MTRR allele 66G), in the formation of hyperhomocysteinemia (HHcy). Data from the literature indicate that HHcy is more common in PCOS patients than in healthy women and it is assumed that it can be one of the risk factors for the development of this disease and predisposing to the occurrence of metabolic disorders inherent in it. The consequence of HHcy is considered to be a violation of the structure and function of the endothelium and, accordingly, vascular tone, which leads to disorders of adequate angiogenesis, from which to a large extent depend on folliculogenesis, the formation of a dominant follicle and the quality of the ovarian reserve, and HHcy itself is considered a risk factor for the development of reproductive disorders. Since the time when scientific works first appeared on establishing the relationship between MTHFR, MTR, MTRR gene polymorphisms and PCOS, research is constantly being conducted in this direction and it is assumed that the relationship between folate cycle gene polymorphisms and PCOS, mediated by the level homocysteine in blood serum. However, the obtained results remain highly controversial. This literature review substantiates the need for further research in this direction in order to clarify the role of polymorphic variants of folate cycle genes as candidate genes for the development of PCOS in women of reproductive age in the Ukrainian population.