QUANTIFICATION OF FREE CIRCULATING DNA AND DIFFERENTIAL METHYLATION PROFILING OF SELECTED GENES AS NOVEL BIOMARKERS FOR ENDOMETRIOSIS DIAGNOSIS

"Endometriosis is a chronic, oestrogen-dependent disease associated with the migration of endometrial cells into the pelvic cavity, causing inflammation and pain. Approximately 10% of women are affected by the disease. Diagnosis is often delayed and confirmed by laparoscopy.In the present study, we aimed to develop an early diagnostic test for endometriosis in the serum of 78 young women, 38 of whom were suspected of having endometriosis, compared with 40 healthy women. We found a significant difference between the two groups when cell-free DNA was quantified. On average, there was 3.9 times more cell-free DNA in the serum of women with endometriosis. Then, we identified nine targeted genes, already defined in a previous patent study; four of them have a significant differential methylation profile, representing an epigenetic signature of the disease. These data have enabled us to develop a very early and minimally invasive diagnostic method based on the extraction of a small fraction of cell-free DNA and its differential methylation profile.The culmination of our research has development of a cost-effective, remarkably early, and minimally invasive diagnostic method. The implications of our findings extend beyond the realms of diagnostic advancement, fostering a deeper understanding of the molecular underpinnings of endometriosis and paving the way for more targeted and effective therapeutic interventions."