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Registration Number

0225U000041, (0122U200829) , R & D reports

Title

To investigate the gender characteristics of genetically determined reproductive failure in humans

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Оптимізація алгоритму генетичних досліджень у випадку наявності гендерно нерівнозначного внеску в генез порушень процесів відтворення у людини

Head

Zastavna Danuta V., д.б.н.

Registration Date

03-01-2025

Organization

State institution "Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine"

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Develop and test an algorithm for selecting criteria for assessing the gender predisposition of genetically determined human reproductive losses

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 The obtained results allow us to argue the extreme relevance of the multi-level study of genome structures involved in the mechanisms of self-reproduction of the human population. We defend the statement that classical karyotyping is the gold standard in the system of evaluating the biology of reproduction. A correctly selected complex of cytogenetic, molecular genetic and molecular cytogenetic studies allows us to verify the genetic component in the genesis of male infertility as accurately as possible. Among the possible epigenetic factors of disorders of spermatogenesis processes, we consider the features of follicle-stimulating and androgenic hormone receptors. We defend the statement that epigenetic changes in spermatozoa under the influence of sex hormones can affect the processes of gametogenesis through changes in DNA methylation processes and gene expression. The established association of reproductive losses of unknown genesis with the carriership of DQ2.5 – a genotype of predisposition to celiac disease suggests the feasibility of HLA genotyping in risk groups for reproductive failures in order to identify the autoimmune component. Genotyping of immunoglobulin-like receptors of NK cells (KIRs) in a group of women with repeated failed implantations allowed us to isolate the critical KIR-AA genotype for women. We believe that idiopathic repeated pregnancy losses are associated with aberrant immune function and specific loss of immune autotolerance and autoimmunity. We advocate the need for a comprehensive assessment of the risk of hereditary diseases in the genesis of reproductive failures in order to correctly prevent them before conception.

Product Description

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Huleiuk Nataliia L.
Zastavna Danuta V.
Lozynska Mariia R.
Sosnina Kateryna O.
Terpyliak Oresta I.
Tyrkus Marta Ya.
Tkach Iryna
Tretiak Bohdan I.
Chorna Liliia B.
Sharhorodska Yevheniia B.

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2025-01-03