Researchers Uncover Genetic Cause Behind Endometriosis

The causes behind endometriosis are still not understood. But new research appears to have uncovered a genetic reason for the debilitating illness as well as identified a promising new drug target.

The study’s team consisted of researchers from Baylor College of Medicine, the University of Oxford, and the University of Wisconsin-Madison. Their findings were recently published in the journal Science Translational Medicine.

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Upon beginning their study, the researchers hoped to develop new insight into how to treat endometriosis by performing genetic analyses on participants. In doing so, they identified a specific gene, NPSR1, which appears to increase the likelihood of an endometriosis diagnosis.

As Medical Xpress explains, researchers at Oxford University previously studied families that had at least three women with endometriosis. In doing so, they uncovered a genetic link between endometriosis and chromosome 7p13-15.

Researchers Uncover Genetic Cause Behind Endometriosis

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Then, using “in-depth sequencing analysis of the endometriosis families at Oxford,” the team at Baylor College was able to narrow this down further to identify the genetic cause as the NPSR1 gene. They found the majority of women carrying these genes were suffered from stage III/IV endometriosis. The team also performed a genetic sequence on rhesus monkeys in which they found similar results.

Finally, the researchers at Oxford University then conducted another study of 11,000 women – some of which had endometriosis – in which they re-confirmed that the NPSR1 gene is consistent in women who received a third or fourth stage diagnosis.

This is one of the first examples of DNA sequencing in nonhuman primates to validate results in human studies,” Dr. Jeffrey Rogers, a professor at Baylor College, explained of the results.

Moreover, the findings are helping researchers develop new treatments. During their genetic analyses, the researchers at Baylor used an “NPSR1 inhibitor to block protein signalling of that gene in cellular assays and then in mouse models of endometriosis,” Medical Xpress explained.

The inhibitor worked to reduce inflammation and abdominal pain, so there’s hope it could become a regular treatment option for people living with endometriosis.

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Endometriosis is a painful condition in which the tissue that’s supposed to line the inside of the uterus grows on the exterior. While the exact causes are unknown, Mayo Clinic explains that theories suggest it could be due to retrograde menstruation, surgical scar implantation, or an immune system disorder, among many things.

There are also a variety of risk factors, like menstruating at an early age, never giving birth, history of heavy or painful menstrual periods, or beginning menopause at an older age. The condition can be debilitating, as it can cause painful menstrual cycles as well as issues with fertility. Endometriosis has also been linked to cancer.

Speak to your doctor for more information.

Sources: Medical Xpress, Science Translational Medicine, Mayo Clinic,

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