Shanghai First Maternity and Infant Hospital, TongJi University School of Medicine, No. 2699, hi-tech west road, Pudong new area, Shanghai, 201204, China.
School of Life Science and Technology, ShanghaiTech University, Shanghai, 201204, China.
J Ovarian Res. 2024 Jun 6;17(1):122. doi: 10.1186/s13048-024-01440-1.
Endometriosis is a heritable, complex chronic inflammatory disease, for which much of the causal pathogenic mechanism remain unknown.Despite the high prevalence of ovarian chocolate cyst, its origin is still under debate.
Prevailing retrograde menstruation model predicts that ectopic endometrial cells migrate and develop into ovarian chocolate cyst. However, other models were also proposed. Genome-wide association studies (GWASs) have proved successful in identifying common genetic variants of moderate effects for various complex diseases.
A growing body of evidence shows that the remodeling of retrograde endometrial tissues to the ectopic endometriotic lesions involves multiple epigenetic alterations, such as DNA methylation, histone modification, and microRNA expression.Because DNA methylation states exhibit a tissue specific pattern, we profiled the DNA methylation for ovarian cysts and paired eutopic endometrial and ovarian tissues from four patients. Surprisingly, DNA methylation profiles showed the ovarian cysts were closely grouped with normal ovarian but not endometrial tissues.
These results suggested alterative origin of ovarian cysts or strong epigenetic reprogramming of infiltrating endometrial cells after seeding the ovarian tissue. The data provide contributing to the pathogenesis and pathophysiology of endometriosis.
子宫内膜异位症是一种遗传性、复杂的慢性炎症性疾病，其许多因果发病机制仍不清楚。尽管卵巢巧克力囊肿的患病率很高，但它的起源仍存在争议。
流行的逆行月经模型预测异位子宫内膜细胞迁移并发展为卵巢巧克力囊肿。然而，也提出了其他模型。全基因组关联研究（GWAS）已成功鉴定出多种复杂疾病的中等效应常见遗传变异。
越来越多的证据表明，逆行子宫内膜组织向异位子宫内膜病变的重塑涉及多种表观遗传改变，如 DNA 甲基化、组蛋白修饰和 microRNA 表达。由于 DNA 甲基化状态表现出组织特异性模式，我们对来自四个患者的卵巢囊肿和配对的在位子宫内膜和卵巢组织进行了 DNA 甲基化分析。令人惊讶的是，DNA 甲基化图谱显示卵巢囊肿与正常卵巢而不是子宫内膜组织密切聚集。
这些结果表明卵巢囊肿具有替代性起源，或者在种植卵巢组织后，浸润性子宫内膜细胞发生强烈的表观遗传重编程。这些数据为子宫内膜异位症的发病机制和病理生理学提供了新的认识。
