Endometriosis and Epigenetics: What do we Know?

Abstract

Endometriosis is a common gynecological condition with a pathogenesis that is multifactorial and not well understood. The aim of this review was to explore the multiplicity of epigenetic changes in the field of this disease. Main Findings Epigenetic alterations in endometriosis may be classified into four main categories, with cross-reactions between these changes as well as genetic, environmental, hormonal factors, etc. Deoxyribonucleic acid (DNA) hypomethylation and hypermethylation control the transcription of several genes leading to the progression of this condition. Micro RNAs (miRNA) dysregulation controls ribonucleic acid (RNA) translation, degradation, and splicing. Immunologic changes involved downregulate the ability of immune cells to target shed cells. Furthermore, histone hypoacetylation and hyperacetylation affect the metabolism of steroids. Conclusion Endometriosis pathogenesis is a very wide and complex subject, associating several hypotheses. The epigenetic pathways discussed in this review may be the target of new more effective treatments in this field.

Expression Profile Analysis of Circular RNAs in Ovarian Endometriosis by Microarray and Bioinformatics

“…Based on twin studies, the heritability of the condition is estimated at approximately 50% [5], thus emphasizing the importance of genetic or epigenetic contribution to the disease etiology and pathogenesis. Although it is not a malignant condition, its biological behaviors, including metastasis and implantation, are similar to that of tumors [6,7]. There exists a large amount of molecular aberrations among ectopic endometrium (EC) (endometriotic lesions), paired eutopic endometrium (EU), and normal endometrium from women free of endometriosis, which might explain the mechanism of the abnormal growth of EU outside the uterus with endometriosis.…”

Epigenetic Alterations Affecting Transcription Factors and Signaling Pathways in Stromal Cells of Endometriosis

“…As a hormone-driven disorder it affects women of reproductive age, and it is associated with chronic pelvic pain, pelvic inflammatory reactions and infertility. Although it is not a malignant condition, it shares its metastasizing-like biological behavior and certain aspects of gene expression with cancers [ 1 ]. In healthy individuals, the development and the maintenance of the decidua is dependent on progesterone, and a hormonal withdrawal in the absence of pregnancy provokes apoptosis and shedding of the endometrium and differentiated decidual cells during menstruation [ 2 ]; this physiological response is altered in women with endometriosis partly due to progesterone-resistance of the ectopic endometrial tissue [ 3 ].…”

Endometriosis and risk of ovarian cancer

“…The disease often has a substantial impact on the quality of life of those affected. Usually, it manifests itself with the following symptoms: dysmenorrhea, dyspareunia, chronic pelvic pain, infertility, urinary or digestive symptoms [2]. The diagnosis can be suspected by ultrasound and MRI tests, but the final diagnosis is based on histopathological examination [3].…”