Gene and molecular characterization of ovarian endometriosis from Saudi patients: inflammatory, autophagy, and epigenetic markers

not-yet-known not-yet-known not-yet-known unknown Background. Ovarian endometriosis is a persistent inflammatory disease characterized by the atypical presence of stroma and endometrial-like glands within the ovaries, often leading to sterility and increased risk of ovarian cancer. Despite the frequent occurrence of the disease, the molecular characteristics of ovarian endometriosis are poorly investigated. Methods. The present study investigated the histopathological and molecular characteristics of ovarian endometriosis in Saudi patients, with a focus on inflammatory responses, autophagic activity, and epigenetic modifications. Tissue specimens were collected from patients undergoing to laparoscopic surgery for ovarian endometriotic cyst (n=30) or for functional cyst (n=45). Results. Histopathological analysis revealed the presence of stromal fibrosis and chronic inflammation in endometriotic lesions. Real-time PCR-based gene expression profiling revealed the upregulation of PTTG1 and IL6. Conversely, genes associated with apoptosis and cell cycle regulation, such as TNFRSF10D, CDK4, and CDKN1A, were downregulated. A notable dysregulation of genes associated with immune modulation and cell cycle regulation, specifically IL10 and PTTG1, was observed. Interestingly, while the IL-6 gene was upregulated, its protein level was downregulated, suggesting the presence of post-transcriptional regulatory mechanisms that act to limit excessive inflammation. Increased autophagic activity, evidenced by elevated LC3 expression in patients compared to controls, was associated with decreased levels of Ubiquitin mRNA. Epigenetic changes were also observed, including the upregulation of DNMT3B and the downregulation of H3.1, highlighting a key role of epigenetic factors in the progression or regression of the disease. Conclusions. The present findings highlight the molecular mechanisms involved in ovarian endometriosis, including inflammation, autophagy, and epigenetic modifications, identifying potential therapeutic targets.