New Study: Scientists have identified genetic cause of endometriosis, leading to potential treatment breakthroughs

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A new study by the University of Oxford, Baylor College of Medicine, the University of Wisconsin-Madison, and Bayer AG have identified the genetic cause of endometriosis and potential drug target. This groundbreaking discovery was achieved by performing genetic analyses of humans and rhesus macaques. Scientists offered new insight into treating this debilitating disease, which is welcome news for the 1 in 10 women who suffer from this debilitating disease. 

imageWhat is endometriosis? 

Endometriosis (pronounced en-doe-me-tree-O-sis) is a chronic and painful disease in which tissue similar to the tissue that normally lines the inside of the uterus (the endometrium), grows outside the uterus. Endometriosis most commonly targets the ovaries, fallopian tubes, and the tissue lining the pelvis. Seldomly, endometrial-like tissue may be found in the intestines. 

With endometriosis, the endometrial-like tissue acts as endometrial tissue would in a healthy woman. It thickens, breaks down, and bleeds with each menstrual cycle. 

However, as this tissue has no way to exit the body, it becomes trapped. This is where the problems start.

When endometriosis involves the ovaries, cysts called endometriomas may form. The surrounding tissue may become irritated, eventually developing into scar tissue and adhesions (bands of fibrous tissue that can cause pelvic tissues and organs to stick to each other). 

Endometriosis causes pain, sometimes severe pain; especially during menstrual periods. Fertility problems can also develop. Fortunately, effective treatments are available but are limited. 

Let's delve into the details

Scientists found that a specific gene called NPSR1 increases the risk of endometriosis. The results uncovered a potential drug target for improved endometriosis therapy, which is currently quite limited. 

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Source: News Scientist

In an earlier study, scientists discovered a genetic linkage to endometriosis on chromosome 7p13-15 in DNA. Subsequently, this finding was confirmed in the DNA of rhesus monkeys with spontaneous endometriosis.

This validation supported further research through in-depth sequencing analysis of the endometriosis families at Oxford, which narrowed down the genetic cause to rare variants in the NPSR1 gene.

This new study involved more than 11,000 women, including patients with endometriosis and healthy women. They identified a specific common variant in the NPSR1 gene also associated with stage III/IV endometriosis.

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Jeffrey Rogers, Associate Professor at the Human Genome Sequencing Center at Baylor, expressed his enthusiasm at these findings: 

“This is one of the first examples of DNA sequencing in nonhuman primates to validate results in human studies and the first to make a significant impact on understanding the genetics of common, complex metabolic diseases. The primate research helped to provide confidence at each step of the genetic analysis in humans and gave us the motivation to carry on chasing these particular genes.”

Using NPSR1 inhibitors, scientists blocked the protein signalling of that gene in cellular assays. In doing so, they were able to reduce inflammation and abdominal pain. This treatment identified a target for future research in treating endometriosis.

Krina Zondervan, Professor of Reproductive and Genomic Epidemiology, further commented on the findings:

“This is an exciting new development in our quest for new treatments of endometriosis, a debilitating and underrecognized disease affecting 190 million women worldwide. We need to do further research on the mechanism of action and the role of the genetic variants in the modulation of the gene’s effects in specific tissues.”

“However, we have a promising new nonhormonal target for further investigation and development that appears to address the inflammatory and pain components of the disease directly.”

These findings are welcome news to the millions of women who suffer from Endometriosis and provide some peace of mind to those who have been newly diagnosed.

The findings in this article were taken from the journal Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis.

Read more from the research article, here.