In a win for women afflicted with endometriosis, scientists have successfully mapped the cellular changes associated with the disease.
The findings of the study, published in the journal Nature Genetics, will help improve therapeutic strategies for the millions of women affected by the cancer-like disease.
“Endometriosis has been an understudied disease in part because of limited cellular data that has hindered the development of effective treatments,” Kate Lawrenson, an associate professor in the Department of Obstetrics and Gynecology at Cedars-Sinai medical center in Los Angeles, was quoted as saying by The Guardian.
Endometriosis affects roughly 1 in 10 women worldwide. It is characterized by uterus-like cells growing in parts of the body other than the uterus. These cells most commonly grow on the ovaries, fallopian tubes, and in the abdominal cavity. Its symptoms include chronic pain, infertility, headaches, fatigue and bowel and bladder dysfunction.
“The disease can travel throughout the body, so in many ways, it behaves like cancer. But why does endometriosis behave like cancer while rarely becoming cancer?” Lawrence said.
For the study, the researchers analyzed more than 400,000 cells from 21 patients. While some of the participants had endometriosis, others did not. The scientists mapped the molecular changes associated with endometriosis and profiled the different cell types involved.
“Large-scale next-generation sequencing projects have been incredibly helpful in understanding how cancer works and in designing targeted therapeutics. We expect it can do the same for endometriosis,” Lawrenson noted.
The results of the study were encouraging and will allow other scientists to build on this study’s success.
“We were able to identify the molecular differences between the major subtypes of endometriosis, including peritoneal disease [affecting the abdominal cavity] and ovarian endometrioma. This resource can now be used by researchers all throughout the world to study specific cell types that they specialize in, which will hopefully lead to more efficient and effective diagnosis and treatment for endometriosis patients,” Lawrence explained, as per the outlet. “It really is a game-changer.”
Current treatments for the disease include surgical removal of cysts and lesions, pain relief and hormone therapies. These limited options have had variable levels of success. In certain cases, women may even have to get their ovaries or uterus removed.
The Cedars-Sinai team is already making use of the map to study therapeutic targets in animal models.
Worryingly, diagnosis of the disease takes an average of seven to eight years generally, despite it being so common. On top of that, the covid-19 pandemic has had a disproportionate effect on women’s health, according to a report from the Royal College of Obstetricians and Gynaecologists. According to the report, the pandemic increased difficulties for women with endometriosis by hampering the management of the disease and restricting access to the specialist treatment they needed.