Scientists have mapped the cellular changes linked to endometriosis to help improve therapeutic options for the millions of women affected by the disease.
Roughly 1 in 10 women are affected by the condition, which is characterised by cells similar to those lining the uterus growing elsewhere in the body – most commonly on the ovaries, fallopian tubes and in the abdominal cavity. Patients with the disorder can experience chronic pain, infertility, headaches and fatigue, as well as bowel and bladder dysfunction. Despite it being so common, it takes an average of seven to eight years to be diagnosed with endometriosis because it is so poorly understood.
“Endometriosis has been an understudied disease in part because of limited cellular data that has hindered the development of effective treatments,” said Kate Lawrenson, an associate professor in the Department of Obstetrics and Gynecology at Cedars-Sinai medical centre in Los Angeles, and co-senior author of the study, which is published in Nature Genetics.
“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?”
To better understand the disease, Lawrenson and her colleagues analysed more than 400,000 cells from 21 patients, some of whom had endometriosis and others who were disease-free. Doing so enabled them to map the molecular changes associated with endometriosis and profile the many 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,” said Lawrenson.
“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 specialise in, which will hopefully lead to more efficient and effective diagnosis and treatment for endometriosis patients. It really is a gamechanger.”
Treatment for endometriosis is currently limited to surgical removal of cysts and lesions, pain relief, and hormone therapies, such as the contraceptive pill or intrauterine system (IUS), with variable levels of success. In severe cases, women may resort to having their ovaries or uterus removed. The hope is that a better understanding of the molecular underpinnings of the disease will enable the development of more targeted therapies, as it has for cancer.
Already, the Cedars-Sinai team is using the atlas to test therapeutic targets in animal models of the disease.
