Genetic map of cells linked to endometriosis could improve treatments

The cells involved in endometriosis have been genetically mapped as part of a small study that could lead to new treatments for the condition.

Endometriosis affects around one in 10 women worldwide, according to the World Health Organization. It occurs when tissue similar to the lining of the uterus grows in other parts of the body, such as the ovaries, fallopian tubes and the tissue lining the pelvis. Symptoms include pain and difficulty becoming pregnant. It has no cure, with existing treatments aiming to ease symptoms.

The cause of endometriosis is unknown, however it often runs in families. Better understanding the genetic pathways involved in the condition could lead to the development of new treatments, says Kate Lawrenson at Cedars-Sinai Medical Center in Los Angeles, California.

To look for genetic links, Lawrenson and her colleagues collected more than 400,000 cells from the pelvic tissue of 21 women aged between 21 and 62. Of these women, 17 had been diagnosed with endometriosis, with some cells being taken from their endometriosis-related lesions. The remaining four women had not been diagnosed with endometriosis and acted as the control group.

The researchers sequenced these various cells to create a map of the genetic expressions in the cells affected by endometriosis.

The map led to the team identifying a genetic mutation whose cellular effects could one day be an endometriosis drug target. The mutation appears to affect the lymphatic vessels that surround endometriotic lesions. Previous studies suggest endometriotic tissue may spread around the body via the lymphatic system.

“This work indicates potential routes and targets for investigation in endometriosis,” says Lucy Whitaker at the University of Edinburgh, UK. However, the endometriosis map is inconclusive given the study’s small sample size, she says.

Nevertheless, the research may enable us to better understand the cellular signatures of endometriosis, which could lead to novel treatment targets, she says.