Potential Genetic Target for Treating Endometriosis Identified by Researchers

Scientists from Michigan State University have revealed a possible genetic target for treating an especially sore and aggressive form of endometriosis. According to a postdoctoral fellow in the Michigan State University (MSU) College of Human Medicine, Mike Wilson said that their study could lead to better treatments for women suffering from severe forms of endometriosis. 

According to the release, the research focused on a type of endometriosis in women who have a mutation in a gene called ARID1A, which is linked to the more invasive and painful form of the disease. Co-author of the study Jake Reske added that the release further said that when ARID1A is altered, DNA's super-enhancers determine the cells' function, run wild, allowing the cells that normally line in the uterus to form deep implants outside the uterus and give a severe pelvic pain. He added that there are no successful non-hormonal therapies for this form of endometriosis. 

A study published in the BMC's Journal of Hematology and Oncology defined ARID1A as a large cluster of enhancers with unusually high transcription factor binding levels, which are dominant in driving expression of genes controlling identity and triggering oncogenic transcription. 

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Methods and results of the study

According to the release, Wilson and Reske tested a drug that appears to target super-enhancers and stop the spread of endometriosis in laboratory experiments. The release further said that the drug, part of a new type of treatment called epigenetic therapy that can control how genes are expressed, can be more effective than current medications, including pain management, hormone therapy, and surgery. 

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Supervisor of the study and assistant professor of obstetrics, gynecology, and reproductive biology Ronald Chandler, Ph.D., said that it could seriously affect women's quality of life and their ability to have a family and work. He added that the disease could become resistant to hormone therapy. He further said that the most clinically impactful thing their team has found is that targeting super-enhancers can be a new treatment for the disease's said deeply invasive form. 

In the release, Wilson said that the drug the researchers have studied targets protein present in the cells called P300, which can suppress super-enhancers and equipoising the effects of the ARID1A mutation. The release further said that the same type of treatment can be used to treat other forms of endometriosis. 

What is Endometriosis?

According to Mayo Clinic, endometriosis is an often painful disorder in which tissue similar to the tissue normally lining inside the uterus grows outside of it. They added that it commonly involves ovaries, fallopian tubes, and the tissue lining on the pelvis. Mayo Clinic emphasized that the endometrial-like tissue thickens, breaks down, and bleeds every menstrual cycle. However, the tissue cannot go outside of the body, which traps it inside. UCLA Health added that endometriosis's exact cause is unknown, but several theories explain how and why it happens. They added that retrograde menstruation is when blood and tissues from the uterus travel through the fallopian tube into the abdominal cavity during a period. 

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