Genetic map of cells responsible for endometriosis could improve treatments

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

Through Jason Arunn Murugesu

Cells involved in endometriosis have been genetically mapped in a small study that could lead to new treatments for the disease.

Endometriosis affects approximately one in 10 women worldwide, according to the World Health Organization. It occurs when tissues similar to the lining of the uterus grow in other parts of the body, such as the ovaries, fallopian tubes, and tissues that line the pelvis. Symptoms include pain and difficulty becoming Pregnant. There is no cure, with existing treatments aimed at relieving symptoms.

The cause of endometriosis is unknown, but it is often hereditary. Better understand the genetic the pathways involved in the disease could lead to the development of new treatments, according to Kate Lawrenson at Cedars-Sinai Medical Center in Los Angeles, California.

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

The researchers sequenced these different cells to create a map of gene expressions in cells affected by endometriosis.

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

“This work points to potential avenues 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 allow us to better understand the cellular signatures of endometriosis, which could lead to new treatment targets, she says.