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Review
. 2020 May 2;9(5):1309.
doi: 10.3390/jcm9051309.

Genetic, Epigenetic, and Steroidogenic Modulation Mechanisms in Endometriosis

Anna Zubrzycka  1   2 , Marek Zubrzycki  3 , Ewelina Perdas  4 , Maria Zubrzycka  4
Affiliations
Review

Genetic, Epigenetic, and Steroidogenic Modulation Mechanisms in Endometriosis

Anna Zubrzycka et al. J Clin Med. .

Abstract

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.

Keywords: DNA methylation; endometriosis; epigenetics modifications; genetics; histone proteins; microRNA.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Summary model for the pathogenesis of endometriosis.
Figure 2
Figure 2
Epigenetic regulation of gene expression in endometriosis.
Figure 3
Figure 3
DNA hypo- and hypermethylation in endometriosis. Effects of PGE2-EP2/EP4 inhibition may be due to epigenetic mechanisms such as DNA methylation and histone modification.
See this image and copyright information in PMC

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