Title: Molecular-genetic background of endometriosis: diagnostic potential of heritable and expressed factors
Dr. Novak has experience in assessing the disease and its effects on the health and well-being of the female population. Data analysis and her own ongoing research of optimizing the technology for analyzing potential molecular-genetic markers of this disease can be useful for improving the diagnostic significance (sensitivity / specificity) of diagnostic methods for endometriosis based on the analysis of micro-RNA in endometrial tissue. This opportunity is the result of the interaction of specialists from the fields of clinical gynecology, molecular biology, bio-statistics and analytical technologies.
Statement of the problem. Endometriosis is a chronic, progressive and / or recurrent disease affecting women of reproductive age. The disease manifests itself in pain, dysmenorrhea and infertility. The social significance of the problem is due to the reliably high frequency of infertility, spontaneous abortion and premature birth. Our work presents data of hereditary factors for the development of endometriosis, including the genes WNT4, VEZT, ID4, NFE2L3, CDKN2BAS1, GREB1, IL1A, ETAA1, FN1, RND3, associated with an increased risk of endometriosis. It has been shown that a hereditary predisposition to the development of this disease is multifactorial and it is still poorly understood. We systematized the previously described molecular genetic characteristics of ectopic and eutopic foci of endometriosis, including a study to simultaneously evaluate the expression levels of 1488 miRNA molecules in eutopic endometrium. We also supplement the review with data from our own research. The aim of the research is the study of new effective diagnostic methods for endometriosis. Methodology and theoretical orientation: The analysis of the expression profile of endometrial cells obtained from patients with endometriosis was performed by the method of chip hybridization (Affimetrix platform) using a specific panel: miRCURY ™ LNA Array (Exiqon platform). We used analysis of data from other authors and the same methods of laboratory diagnostics. Findings: Detected significant deviations in the expression of regulatory micro-RNA in eutopic endometrium among infertile and fertile patients with endometriosis. We continue the study with the expansion and refinement of micro-RNA profiles. Conclusion and significance: Our study continues the work of other authors in the search for effective markers for the diagnosis and monitoring of the effectiveness of the treatment of fertile and infertile patients with endometriosis.