Current views on the role of genetic disorders in the etiology and pathogenesis of endometriosis
- 作者: Kalimatova D.M.1, Dobrokhotova Y.E.1
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隶属关系:
- N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation
- 期: 编号 3 (2021)
- 页面: 44-49
- 栏目: Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/249022
- DOI: https://doi.org/10.18565/aig.2021.3.44-49
- ID: 249022
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详细
The paper analyzes the data available in the literature on the results of investigating the sequences and relationships of genetic disorders in endometriosis. Hereditary predisposition to this disease is characteristic for women with clinical manifestations of endometriosis. This category of patients is noted to have epigenetic disorders in the progenitor cells and stem cells of the coelomic epithelium, endometrium, endometrial vasculature, and in other tissues of the reproductive system. Critical disorders of genome-wide DNA methylation and changes in the signaling pathways of gene expression regulation are shown to be characteristic for endometrioid stromal cells. Most of these disorders develop in the stromal cells that have the properties of stem cells and partially the characteristics of ovarian cell granules and immune cells, such as the production of estradiol, prostaglandin, and cytokines. These cells originating from the ectopic endometrium show the abnormal expression of a number of transcription factors that regulate key genes necessary for progesterone-regulated differentiation of normal endometrial stromal cells. It has been shown that the endometrial cells exhibit mutations, including driver mutations in ovarian cancer. Intense paracrine inflammatory signals, together with estrogens from epigenomically improperly programmed endometrioid cells, can lead to increased epithelial mutagenesis and activation of carcinogenesis. Conclusion. It is necessary to further study the genetic aspects of endometriosis in order to deepen our understanding of the pathogenesis of the disease and to develop promising treatment methods.
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作者简介
Donna Kalimatova
N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation
Email: 9227707@gmail.com
Ph.D., Associate Professor of the Department of Obstetrics and Gynecology of the Faculty of Medicine
Yulia Dobrokhotova
N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation
Email: pr.dobrohotova@mail.ru
Dr. Med. Sci., professor, Head of the Department of Obstetrics and Gynecology of Medical Faculty
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