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Genetic, Epigenetic, and Steroidogenic Modulation Mechanisms in Endometriosis

1
Department of Biomedicine and Genetics, Medical University of Lodz, Pomorska 251, 92-213 Lodz, Poland; Poland
2
Department of Operative and Conservative Gynecology, K. Jonscher Memorial Hospital, Milionowa 14, 93-113 Lodz, Poland
3
Department of Cardiac Surgery and Transplantology, The Cardinal Stefan Wyszynski Institute of Cardiology, Alpejska 42, 04-628 Warsaw, Poland
4
Department of Cardiovascular Physiology, Faculty of Medicine, Medical University of Lodz, Mazowiecka 6/8, 92-215 Lodz, Poland
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(5), 1309; https://doi.org/10.3390/jcm9051309
Received: 3 April 2020 / Revised: 24 April 2020 / Accepted: 30 April 2020 / Published: 2 May 2020
(This article belongs to the Special Issue Diagnosis and Management of Endometriosis and Uterine Fibroids)
Endometriosis is a chronic gynecological disease, affecting up to 10% of reproductive-age women. The exact cause of the disease is unknown; however, it is a heritable condition affected by multiple genetic, epigenetic, and environmental factors. Previous studies reported variations in the epigenetic patterns of numerous genes known to be involved in the aberrant modulation of cell cycle steroidogenesis, abnormal hormonal, immune and inflammatory status in endometriosis, apoptosis, adhesion, angiogenesis, proliferation, immune and inflammatory processes, response to hypoxia, steroidogenic pathway and hormone signaling are involved in the pathogenesis of endometriosis. Accumulating evidence suggest that various epigenetic aberrations may contribute to the pathogenesis of endometriosis. Among them, DNA methyltransferases, histone deacetylators, and non-coding microRNAs demonstrate differential expression within endometriotic lesions and in the endometrium of patients with endometriosis. It has been indicated that the identification of epigenetic differences within the DNA or histone proteins may contribute to the discovery of a useful prognostic biomarker, which could aid in the future earlier detection, timely diagnosis, and initiation of a new approach to the treatment of endometriosis, as well as inform us about the effectiveness of treatment and the stage of the disease. As the etiology of endometriosis is highly complex and still far from being fully elucidated, the presented review focuses on different approaches to identify the genetic and epigenetic links of endometriosis and its pathogenesis. View Full-Text
Keywords: endometriosis; genetics; epigenetics modifications; DNA methylation; histone proteins; microRNA endometriosis; genetics; epigenetics modifications; DNA methylation; histone proteins; microRNA
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MDPI and ACS Style

Zubrzycka, A.; Zubrzycki, M.; Perdas, E.; Zubrzycka, M. Genetic, Epigenetic, and Steroidogenic Modulation Mechanisms in Endometriosis. J. Clin. Med. 2020, 9, 1309. https://doi.org/10.3390/jcm9051309

AMA Style

Zubrzycka A, Zubrzycki M, Perdas E, Zubrzycka M. Genetic, Epigenetic, and Steroidogenic Modulation Mechanisms in Endometriosis. Journal of Clinical Medicine. 2020; 9(5):1309. https://doi.org/10.3390/jcm9051309

Chicago/Turabian Style

Zubrzycka, Anna, Marek Zubrzycki, Ewelina Perdas, and Maria Zubrzycka. 2020. "Genetic, Epigenetic, and Steroidogenic Modulation Mechanisms in Endometriosis" Journal of Clinical Medicine 9, no. 5: 1309. https://doi.org/10.3390/jcm9051309

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