November 18, 2021

Endometriosis is a condition that occurs when patches of the endometrium, a layer of tissue lining the uterus, travel throughout the body and attach to other organs, like the ovaries or intestines. Unfortunately, 1 in 10 women experiences pain and even infertility due to this disorder. Current treatments include surgery to remove the mislocated tissue and drug treatment to suppress ovarian activity, which can lead to weight gain, mood changes and headaches. 

After decades of study, a team of researchers, including Wisconsin National Primate Research Center scientists, discovered a possible new therapy for endometriosis that zeroes in on a particular region of chromosome 7 as the responsible gene. 

A thorough study of the DNA of women in 32 families with deep-rooted histories of endometriosis helped researchers narrow in on this single gene variant – neuropeptide S receptor 1 (NPSR1) – which they found in many, but not all, of the women with more severe cases of endometriosis.  

To learn more about this complex disease, researchers simulated endometriosis in mice by injecting bits of bacteria or uterine lining into their abdomens while attempting to silence the culprit gene. The researchers saw positive results with the rodents experiencing less inflammation and abdominal pain.  

As a next step, researchers will study this same treatment in monkeys, which have been an animal model for endometriosis studies for several decades. Joseph Kemnitz, former director of the Wisconsin National Primate Research Center, explains, “We documented the similarities of endometriosis in our monkeys compared to affected women in collaboration with Stephen Kennedy at Oxford.” The teams recognized the Wisconsin monkeys offered an excellent opportunity to examine endometriosis and have continued building on early results that revealed a familial pattern, suggesting a genetic risk.

As genomic tools continue to advance and analysis costs decrease, the rate of testing treatments stands to increase. Such comprehensive scientific progress is excellent news for the pursuit of improved human health. 

Source: Science Translational Medicine on Aug. 25, 2021. 

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