A silenced disease that affects one in 10 women . The endometriosis is a condition that still remains largely unknown to a large proportion of society, but which affects more than two million women across Spain . However, more and more women are trying to break the taboo that severe pain during menstruation is not normal and thus look for its possible causes, the most common being endometriosis.
This pathology is only suffered by women and occurs when endometrial tissue grows out of its usual place, “the most frequent locations being the ovary and the uterus,” they explain from the State Association of Endometriosis Affected People . In fact, it is a chronic disease that becomes “recurrent and progressive” and is the “greatest known cause of female infertility,” they add.
However, until now the causes of its appearance were unknown and there is no specific treatment or cure, despite the fact that globally it affects about 15% of the female population. Now, a new study has offered a potential perspective on how to treat this disease that affects the quality of life of so many women around the world.
A specific gene increases the risk of endometriosis
The research, which has been carried out by the Baylor College of Medicine, the University of Oxford, the University of Wisconsin-Madison and Bayer AG, demonstrates how a specific gene called ‘NPSR1’ increases the risk of suffering from this condition.
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To carry out the study, the team ran genetic analyzes of humans and rhesus macaques to identify this gene. “The results reveal a potential new non-hormonal drug target that may lead to improved therapy,” the team stresses in a statement.
The most common symptoms include dysmenorrhea, pain with sexual intercourse, and irregular bleeding.
Endometriosis is a condition that causes inflammation, pain, and reduces fertility, although it can manifest itself to varying degrees. “Its symptoms are usually dysmenorrhea, pain during and after sexual intercourse, reproductive problems, abdominal and / or pelvic pain, heavy and / or regular bleeding, intestinal and urinary disorders, tiredness or fatigue,” they add from the Association.
Therefore, the clinical symptoms are diverse and many women require surgical intervention to remove the endometrial tissue, while others are asymptomatic. ” There is no specific treatment, only palliative for pain,” they say.
A big step for future treatments
In this sense, the treatment is usually hormonal or surgical, but “non-invasive and non-hormonal therapies are urgently needed ,” explain the authors of the study, published in the journal Science Translational Medicine .
“We sequenced DNA from 32 human families that contribute to a genetic linkage signal on chromosome ‘7p13-15 ‘ and observed a significant overrepresentation of the predicted noxious low-frequency coding variants in ‘NPSR1’, the gene that encodes receptor 1 of neuropeptide S, in cases versus controls “, they detail.
The ‘NPSR1 SHA 68R’ inhibitor led to “reduction of inflammatory cell infiltrate and pain in mouse models of peritoneal inflammation and endometriosis . ” More studies in nonhuman primates are still needed, the researchers recall, but this discovery is a big step for future treatment that does not require hormones or surgery.
An inhibitor of the gene to block inflammation and pain
“This is one of the first examples of DNA sequencing in non-human primates to validate results in human studies and the first to have a significant impact on understanding the genetics of common complex metabolic diseases , ” said Dr. Jeffrey Rogers , Professor. associate of the Human Genome Sequencing Center at Baylor.
The research narrowed the genetic cause to rare variants of the ‘NPSR1’ gene.
After conducting the tests, the genetic cause was narrowed down to rare variants in this gene, and most of the women who carried these variants had stage III or IV of the disease. Likewise, an Oxford study of more than 11,000 women, including endometriosis patients and healthy women, identified a specific common variant in the ‘NPSR1’ gene also associated with pathology in these stages.
The teams used an inhibitor for this specific gene with the goal of “blocking protein signaling from this gene in cell assays and later in mouse models of endometriosis.” In such a way that they verified how this therapy reduced inflammation and pain, so it could be the key to the development of future treatments.
