New Study Finds DNA Changes Linked to Endometriosis

Uterine cell DNA doesn't act the same way in people with endometriosis compared to someone without the condition. These changes are different depending on the stage of endo and which hormones uterine cells are exposed to. That's according to an NIH-funded study* published in PLOS Genetics. 

What does this mean?

The results shed some light on how hormone-responsive tissue in endometriosis works on a genetic level and how that affects other physiological processes down the line, said the study authors.1

How did they do the research?Researchers compared the DNA in uterine cells of people with endometriosis to those without a reproductive disorder. Specifically, they looked at endometrial stromal fibroblast (eSF). That's a cell that regulates other cells in the lining of your uterus, or endometrium. They were able to mimic the menstrual cycle for the study. They gave participants estradiol (a form of estrogen) alone, progesterone alone, and a combo of the two.What did the research find?People with endo had an altered DNA expression and response to both progesterone and estradiol. These changes shows up in a biological process called DNA methylation, which affects how your genes work.Interestingly, the research shows that the changes weren't gradual for people with stage I vs. stage IV. (They didn't report on stage II or III.) The differences were distinct. According to the authors, that shows that endo stages might be different subtypes, not varying degrees of the same condition.1They also think the term "progesterone-resistant" isn't quite right for endo. They found that tissue responds to progesterone, just not in the right way.What do the results mean?You need your eSF to respond to steroid hormones in a certain way to have a successful pregnancy. These results give insight into why the DNA response in someone with endo might lead to infertility.2And looking for DNA changes might give doctors another way to diagnose and individually treat endo, Stuart B. Moss told the National Institute of Health. Moss works with the National Institute of Child Health and Human Fertility and Infertility Branch.2What does this mean for the future?This kind of research gets us closer to understanding how endometriosis actually works. If scientists can figure that out, then maybe they can come up with less invasive diagnostic tests and better, targeted therapy down the road.Notes: The NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) funded the study.

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