Epigenetic dysregulation of endometriosis susceptibility genes (Review)

Abstract

The aim of the present review was to illustrate how dysregulation of hormonal signaling regulates expressional changes of spatially associated genes in endometriosis. From a multi‑platform endometriosis dataset, an integrated analysis was performed of epigenomic changes of several biologically relevant genes that have been validated in the literature. Estrogen receptor (ER) may act as a direct epigenetic driver for endometriosis establishment, maintenance and progression. A majority of endometriosis susceptibility genes may be present in functional downstream targets of ER and located near the known imprinting genes. Previous studies have shed light on the overlapping genetic signatures between endometriosis development and the defective decidualization process. The steroid hormone‑mediated decidualization signaling pathway was shown to be frequently dysregulated in endometriosis. DNA methylation is associated with various intragenic or intergenic epigenetic modifications of chromatin. Chromatin architecture may be established in temporal and spatial orchestration of the recruitment of genes specifically downregulated in endometriosis. In conclusion, defective chromatin architecture at the ER target locus may have a key role in endometriosis. Endometriosis represents an interesting model to explore the variation of expression of spatially associated genes.

Bioinformatics strategy for the screening of key genes to differentiate adenomyosis from endometriosis (Review)

“…An enhanced ERβ (ESR2) activity stimulates the progression of endometriosis by inhibiting tumor necrosis factor-α (TNF-α)-induced apoptosis and increasing IL-1β-dependent cellular adhesion and proliferation (101). The steroid hormone-mediated decidualization signaling pathway is considered to be dysregulated in endometriosis (100). Progesterone resistance is associated with endometriosis and contributes to impaired decidualization.…”

Paradigm Shift: The Realization of New Medical Alternatives to Surgery for Endometriosis

“…22 The cells of patients with endometriosis are found to have postconception genetic changes in DNA and messenger RNA (mRNA) alterations. 23 It is suggested that sex hormonebinding globulin (SHBG) may transport some contaminant xenoestrogens into the plasma and modulate their bioavailability to cell tissues. 24 What is not commonly considered is that the estrogenic potential of the xenoestrogens and their metabolites can be just as potent as 17β-estradiol.…”

Environmentally Induced Epigenetic Transgenerational Inheritance of Reproductive Disease1

“…In females, several reproductive diseases have also been associated with epigenetic abnormalities. The occurrence of endometriosis has been linked to the epigenetic deregulation of “endometriosis susceptibility” genes [ 46 – 48 ]. Women exposed in utero to diethylstilbesterol develop cervical malformations.…”