The nervous system and genomics in endometriosis

Abstract

Endometriosis is a gynaecological disease that occurs in approximately 10% to 15% of women of reproductive age and up to 47% of infertile women. The presence of implants of endometrial-like glands and stroma outside the uterus, characteristic of this disease, induce a wide variety of symptoms, mainly pelvic pain and infertility. Women suffering from this condition experience great distress, which significantly affects their quality of life. Numerous studies attempting to decipher the pathogenic mechanisms of endometriosis have been conducted around the world, yet its aetiology still remains unknown. It is widely believed that in women with endometriosis, the endometrium has characteristic features that allow the formation of implants once fragments have entered the peritoneal cavity through retrograde menstruation. Furthermore, a strong genetic tendency to develop the disease has been reported among patients and first-degree relatives. Thanks to the recent technological advances achieved in genomics and bioinformatics, a number of studies have had the potential to analyse several aspects of the pathogenesis of endometriosis from a genetic perspective. Due to the recent identification of nerve fibres in the endometrium of women with endometriosis, research on the neurogenesis of the disease has increased in the past few years. However, the genetic aspects of nerve growth in endometriosis have not been analysed in depth and further research providing important insights into the mechanisms that mediate pain in affected patients has the potential to contribute substantially to the future management of the condition.