Endometriosis is a prevalent gynecological condition associated with pelvic pain and infertility. Despite more than a century of research, the etiology of endometriosis still eludes scientific consensus. This lack of clarity has resulted in suboptimal prevention, diagnosis, and treatment options. Evidence of genetic contributors to endometriosis is interesting but limited; however, significant progress has been made in recent years in identifying an epigenetic role in the pathogenesis of endometriosis through clinical studies, in vitro cell culture experiments, and in vivo animal models. The predominant findings include endometriosis-related differential expression of DNA methyltransferases and demethylases, histone deacetylases, methyltransferases, and demethylases, and regulators of chromatin architecture. There is also an emerging role for miRNAs in controlling epigenetic regulators in the endometrium and endometriosis. Changes in these epigenetic regulators result in differential chromatin organization and DNA methylation, with consequences for gene expression independent of a genetic sequence. Epigenetically altered expression of genes related to steroid hormone production and signaling, immune regulation, and endometrial cell identity and function have all been identified and appear to play into the pathophysiological mechanisms of endometriosis and resulting infertility. This review summarizes and critically discusses early seminal findings, the ever-growing recent evidence of epigenetic contributions to the pathophysiology of endometriosis, and implications for proposed epigenetically targeted therapeutics.

中文翻译：

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子宫内膜异位症的表观遗传失调：对病理生理学和治疗学的影响。


子宫内膜异位症是一种常见的妇科疾病，与盆腔疼痛和不孕有关。尽管经过一个多世纪的研究，子宫内膜异位症的病因学仍然没有达成科学共识。这种不明确性导致预防、诊断和治疗方案不理想。子宫内膜异位症的遗传因素的证据很有趣，但很有限。然而，近年来，通过临床研究、体外细胞培养实验和体内动物模型，在确定表观遗传在子宫内膜异位症发病机制中的作用方面已经取得了重大进展。主要发现包括与子宫内膜异位症相关的 DNA 甲基转移酶和去甲基化酶、组蛋白去乙酰化酶、甲基转移酶和去甲基化酶以及染色质结构调节因子的差异表达。 miRNA 在控制子宫内膜和子宫内膜异位症的表观遗传调节因子方面也发挥着新兴作用。这些表观遗传调节因子的变化会导致染色质组织和 DNA 甲基化的差异，从而对基因表达产生独立于基因序列的影响。与类固醇激素产生和信号传导、免疫调节以及子宫内膜细胞特性和功能相关的基因的表观遗传改变表达均已被鉴定，并且似乎在子宫内膜异位症和由此导致的不孕症的病理生理机制中发挥作用。这篇综述总结并批判性地讨论了早期的重要发现、表观遗传学对子宫内膜异位症病理生理学贡献的最新证据，以及对表观遗传学靶向治疗的影响。