Genetic map of cells linked to endometriosis could improve treatments

Mapping the cells involved in endometriosis could improve our understanding of how genetics influence the risk of the condition and open the door to new drug targets

To Jason Arunn Murugesu

Cells involved in endometriosis have been genetically mapped as part of a small study that may lead to new treatments for this condition.

According to the World Health Organization, endometriosis affects approximately 1 in 10 women worldwide. It occurs when tissue that resembles the lining of the uterus grows in other parts of the body, such as the ovaries, fallopian tubes, and the lining of the pelvis. Symptoms include pain and difficulty conceiving. There is no cure and there are existing treatments aimed at relieving symptoms.

The cause of endometriosis is unknown, but it often occurs in families. A better understanding of the genetic pathways involved in this condition could lead to the development of new treatments, says Kate Lawrenson of Cedars-Sinai Medical Center in Los Angeles, California.

To look for a genetic link, Lawrenson and her colleagues collected more than 400,000 cells from pelvic tissue from 21 women aged 21 to 62. Her remaining four women were undiagnosed with endometriosis and served as a control group.

The researchers sequenced these different cells and created a map of gene expression in cells affected by endometriosis.

Maps has led teams to identify genetic mutations whose effects on cells could one day be drug targets for endometriosis. This mutation appears to affect lymphatic vessels surrounding endometriotic lesions. Previous research suggests that endometriotic tissue may spread throughout the body via the lymphatic system.

“This study indicates a potential pathway and target for investigation of endometriosis,” said Lucy Whitaker of the University of Edinburgh, UK. But given the study’s small sample size, the endometriosis map isn’t conclusive, she says.

Nonetheless, she says, the study will allow us to better understand the cellular characteristics of endometriosis, which may lead to new therapeutic targets.