Erraji Hajar, El Ghanmi Adil, Louanjli Noureddine, Benahmed Mohamed, El Mansouri Fadoua, Zarqaoui Mohammed, Ghazi Bouchra
Immunopathology-Immunotherapy-Immunomonitoring Laboratory, Faculty of Medicine, Mohammed VI University of Sciences and Health (UM6SS), Casablanca, Morocco.
Reproductive Health Physiopathology Laboratory, Mohammed VI Center for Research and Innovation (CM6RI), Rabat, Morocco.
Front Genet. 2025 Jul 28;16:1597287. doi: 10.3389/fgene.2025.1597287. eCollection 2025.
Endometriosis is highly underdiagnosed and undertreated gynecological disorder, with diagnosis often delayed by 8-12 years. This delay can have serious consequences including infertility. Currently, the gold standard for endometriosis diagnosis and treatment is laparoscopy, an invasive surgical intervention. The molecular mechanisms underlying the onset of endometriosis are yet unclear, but it is assumed that epigenetic modifications are an important contributor in the etiopathology of the disease. Given that, dissecting the features of epigenetic aberrations underlying endometriosis can be a crucial step toward developing early and accurate non-invasive diagnostic tools. Accurate and timely diagnosis of endometriosis can significantly reduce healthcare costs, and enhance women's social wellbeing. Epigenetic modifications especially DNA methylation, micro-RNAs and long-RNAs, hold promise as potential biomarkers for the early diagnosis of endometriosis. This review underscores the innovative potential of epigenetic mechanisms as early biomarkers for endometriosis diagnosis. We summarize and critically discuss recent findings and epigenetic modifications role in endometriosis pathophysiology, from DNA methylation and histone modifications to non-coding RNAs in different tissues.
子宫内膜异位症是一种诊断严重不足且治疗不充分的妇科疾病，诊断往往会延迟8至12年。这种延迟可能会产生包括不孕在内的严重后果。目前，子宫内膜异位症诊断和治疗的金标准是腹腔镜检查，这是一种侵入性手术干预。子宫内膜异位症发病的分子机制尚不清楚，但据推测，表观遗传修饰是该疾病病因学的一个重要因素。鉴于此，剖析子宫内膜异位症潜在的表观遗传畸变特征可能是开发早期、准确的非侵入性诊断工具的关键一步。准确、及时地诊断子宫内膜异位症可显著降低医疗成本，并提高女性的社会福祉。表观遗传修饰，尤其是DNA甲基化、微小RNA和长链RNA，有望成为子宫内膜异位症早期诊断的潜在生物标志物。本综述强调了表观遗传机制作为子宫内膜异位症诊断早期生物标志物的创新潜力。我们总结并批判性地讨论了近期的研究发现以及表观遗传修饰在子宫内膜异位症病理生理学中的作用，从DNA甲基化、组蛋白修饰到不同组织中的非编码RNA。
