This is a real breakthrough for women who suffer from endometriosis. According to a study published in the journal Science Transitional Medicine on August 25, researchers from the University of Oxford and several American universities finally discovered the NPSR1 gene which would be responsible for the disease and therefore a potential future treatment. As a reminder, endometriosis is a common chronic inflammatory disease responsible for severe pelvic pain and a cause of infertility in women. As detailed l’Inserm, endometriosis is a very common gynecological disease affecting one in ten women. “It is linked to the presence of tissue similar to the uterine lining outside the uterus” which can spread to the bladder, intestines, rectum, diaphragm or even the lungs. A pathology with very limited treatment options with the exception of surgical interventions or hormone therapy (pill, artificial menopause, etc.).
A specific gene called NPSR1
The researchers carried out genetic analyzes on humans a as well as on rhesus macaques and were able to identify a specific gene, called NPSR1, which increases the risk of suffering from endometriosis. These results reveal a potential non-hormonal drug that could improve the treatment of the disease. In a previous study, researchers at the University of Oxford, led by Dr Krina T. Zondervan, found a genetic link between endometriosis and chromosome 7p13-15 by analyzing DNA from families containing at least three women with endometriosis. Another team from Baylor College of Medicine, led by Dr Jeffrey Rogers, confirmed the presence of this link in the DNA of rhesus monkeys with endometriosis.
Research that allowed for more in-depth sequencing of families affected by the disease, which led to identify the genetic cause due to rare variants of the NPSR1 gene. The gene was first demonstrated in monkeys and then in a study involving more than 11,000 women, which included patients with endometriosis and healthy women. Results, most women with these genetic variants suffered from stage III / IV endometriosis. “This is one of the first examples of DNA sequencing in non-human primates to validate the results of human studies and the first to have a significant impact on understanding the genetics of complex metabolic diseases. and current “, details Jeffrey Rogers in a press release.
A treatment that reduces inflammation and pain
Discovery of the genetic link between severe form of endometriosis and the NPSR1 gene allows to consider a potential drug perspective. Indeed, as part of a collaboration with researchers from the University of Oxford, researchers from the Bayer group used an inhibitor of the NPSR1 gene to block protein signaling of this gene in cellular tests, then in mice with endometriosis. They found that this treatment reduced inflammation and abdominal pain, thus identifying a potential treatment for endometriosis for future research. “This is a promising new development in our quest for new treatments for endometriosis, a disabling and unrecognized disease that affects 190 million women worldwide, ”concludes the head of the reproductive health department at the University of Oxford and co-director of the Endometriosis CaRe Center, Krina Zondervan.