Profiling miRNA in salivary samples from subjects with endometriosis: a pilot study

Endometriosis is a common, chronic, estrogen-dependent gynecological disorder characterized by the growth of endometrial-like tissue outside the uterus and frequently associated with pelvic pain and infertility. Despite its high prevalence, the molecular mechanisms underlying lesion persistence and inflammation remain poorly understood, limiting the development of reliable non-surgical diagnostic tools and targeted therapies.

A case-control study included 176 women with endometriosis and 124 controls. Salivary microRNA (miRNA) expression was analyzed using next-generation sequencing. Patients were stratified into untreated and treated groups (pharmacological or surgical therapy), while controls included healthy individuals and a technical control group of women with benign gynecological conditions to reduce potential confounding factors.

Ten salivary miRNAs were associated with disease activity. Seven (hsa-miR-130a-3p, hsa-miR-130b-3p, hsa-miR-141-3p, hsa-miR-200b-3p, hsa-miR-200c-3p, hsa-miR-203b-5p, and hsa-miR-29c-3p) had previously been linked to endometriosis, while three were associated with inflammatory or cancer-related pathways. Expression levels showed a gradient across clinical groups, with intermediate levels in treated patients, suggesting therapeutic modulation. Target analysis identified PTEN as a key regulated gene, implicating the PI3K/AKT/mTOR pathway.

These findings support salivary miRNAs as promising non-invasive biomarkers for the diagnosis and monitoring of endometriosis and provide further insight into the molecular pathways involved in disease pathogenesis.