Endometriosis cellular mapping could aid diagnosis, treatment

Endometriosis cellular mapping could aid diagnosis, treatment

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Researchers have analyzed almost 400,000 cells in order to build a detailed profile of endometriosis. Image credit: Westend61/Getty Images.
  • Endometriosis affects roughly 10{35112b74ca1a6bc4decb6697edde3f9edcc1b44915f2ccb9995df8df6b4364bc} of people who menstruate.
  • In endometriosis, tissue similar to the uterine lining grows elsewhere in the body, causing painful, heavy periods, abdominal and pelvic pain, and a range of other symptoms.
  • More research is needed for this condition for which there is still no cure, diagnosis can take many years, and treatments are often ineffective.
  • New research analyzing almost 400,000 cells has revealed a detailed molecular profile of endometriosis, which may help improve diagnostic and therapeutic options for people with the condition.

Endometriosis is “a systemic disease that is often painful and chronic.” According to the World Health Organization (WHO), it affects around 190 million people — some 10{35112b74ca1a6bc4decb6697edde3f9edcc1b44915f2ccb9995df8df6b4364bc} of people who menstruate worldwide.

People with the condition experience debilitating symptoms, due to the growth of tissue similar to the uterine lining, or endometrium, elsewhere in the body.

Symptoms may include:

  • heavy and painful periods
  • spotting between periods
  • pain during sexual intercourse or when emptying the bladder or bowels
  • abdominal, lower back, and pelvic pain
  • infertility.

Currently, there is no cure for endometriosis, but symptoms can be treated with medications, such as nonsteroidal anti-inflammatories (NSAIDs), birth control pills, hormonal IUD, surgery, or a combination of these treatments.

Dr. Steven Vasilev, board-certified integrative gynecologic oncologist and medical director of integrative gynecologic oncology at Providence Saint John’s Health Center and Professor at Saint John’s Cancer Institute in Santa Monica, CA, explained the issues to Medical News Today:

“Endometriosis diagnosis and treatment today remains surgical, based on removing or destroying endometriotic lesions growing on the peritoneum (internal skin-like lining of the body) and ovaries, combined with various hormonal modulations. There has not been a major clinical advance in endometriosis diagnosis and treatment outside these relatively narrow parameters in decades.”

Now, a new study led by researchers from Cedars-Sinai Medical Center in Los Angeles, CA, published in Nature Genetics, has analyzed almost 400,000 cells to generate cellular and molecular profiles of endometrial cells.

Its findings may lead to easier diagnosis and more effective treatments for endometriosis.

Although endometriosis affects 10{35112b74ca1a6bc4decb6697edde3f9edcc1b44915f2ccb9995df8df6b4364bc} of people who menstruate, there is a lack of research into the condition. To date, there has been little cellular data about endometriosis.

This, says Dr. Kate Lawrenson, research scientist, co-senior and corresponding author of the study, and associate professor of obstetrics and gynecology and biomedical sciences at Cedars-Sinai, iswhy they undertook this research:

“Endometriosis has a devastating effect on so many people, and is remarkably common. Unfortunately, it is also one of the most underfunded diseases there is, and many basic questions remain unanswered — which is why this research provides a huge leap forward in understanding the biology of his disease.”

“I hope that work like ours can help bring conversations about endometriosis into the forefront, to improve awareness and also increase much-needed funding for endometriosis research,” she told MNT.

In this new study, the researchers used state-of-the-art methods to analyze more than 370,000 cells from 21 participants, 17 of whom had endometriosis and four who did not.

They sampled different tissues — peritoneal endometriosis, ovarian endometriomas, eutopic endometrium samples, and uninvolved ovary tissues. Eutopic endometrium and uninvolved ovary tissues came from people with and without endometriosis.

“The methodology of the study is basic molecular biology. It has done something I have not seen in other endometriosis studies, which is [to] try and break down the various characteristics of endometriosis-type cells depending on [the] body location of the lesion. It is cataloging the cell type and surrounding microenvironment,” Dr. G. Thomas Ruiz, OB/GYN lead at MemorialCare Orange Coast Medical Center in Fountain Valley, CA, not involved in this study, explained for MNT.

The researchers analyzed the cells using droplet-based single-cell RNA sequencing. This method identifies which genes are transcribed to make RNA, determining which proteins the cell makes.

By identifying which genes are transcribed, researchers can see differences between the types of cells under investigation.

Using this method, the researchers identified molecular differences between the major subtypes of endometriosis, including peritoneal endometriosis and ovarian endometrioma.

Dr. Lawrenson explained their findings: “We saw a number of differences when we compared endometriosis cells to endometrium. The endometriosis cells are responding differently to hormones and communicate differently with the immune system.”

“The fact that they are behaving so differently is really exciting, as it potentially provides us with new opportunities for therapeutic targeting,” she added.

“This atlas of molecular findings will help researchers move the ball forward towards achieving earlier diagnosis, differentiation between subtypes of endometriosis, a better understanding of the overlap with ovarian cancer in a small but significant percentage of endometriosis patients, and insights into eventual development of molecularly targeted therapy for endometriosis,” said Dr. Vasilev.

So could this research lead the way to new diagnosis and treatment methods? Dr. Lawrenson believes so, and is investigating potential diagnostics for the condition:

“We urgently need a blood test for endometriosis and this is now one of our top research priorities in the laboratory. We were encouraged to see that in endometriosis, multiple cell types overproduce the same genes, which should make it easier to detect those genes in the blood.”

The research discovered that endometriosis cells and normal cells respond differently to the immune system. New therapies that target the immune system might prove effective in treating the condition, as Dr. Lawrenson explained.

“Recent advances suggest that we might be able to treat endometriosis by correcting how the immune system responds to lesions. This is particularly exciting because there might be immune therapies used for other diseases that could be rapidly repurposed for the treatment of endometriosis,” she told MNT.

There is still a need for further research, and Dr. Ruiz suggested directions this research might take: “Endometrioma, superficial versus deep infiltrating had very specific cellular characteristics. The next step would be in vitro studies to see if various endometriosis cell types act differently to current hormone treatments.”

With the mapping of endometriosis, this research has highlighted potential diagnostic and treatment pathways for investigation — it can only be good news for the many people with this debilitating condition.