In a potentially groundbreaking small-scale study, scientists have mapped the genetics of cells involved in endometriosis, a condition that affects about one in ten women globally. Endometriosis happens when tissue similar to the uterus lining grows in other parts of the body like ovaries or fallopian tubes. This can cause pain and fertility issues. At present, we don’t have a cure, with existing treatments only aiming to alleviate symptoms.
The exact cause of endometriosis remains a mystery, though it’s noted that it tends to run in families. According to Kate Lawrenson from Cedars-Sinai Medical Center in Los Angeles, a better grasp of the genetic mechanisms involved could open the way for fresh treatments.
In search of potential genetic links, Lawrenson’s team collected over 400,000 cells from the pelvic tissue of 21 women, some of whom had been diagnosed with endometriosis. The researchers sequenced these cells to create a genetic expression map for those affected by the condition.
From this map, the team spotted a genetic mutation that could be targeted by future endometriosis drugs. The mutation seems to affect the lymphatic vessels surrounding the endometriotic lesions. It’s been suggested in prior studies that these lymphatic vessels may be the conduits through which endometriotic tissue spreads around the body.
Lucy Whitaker from the University of Edinburgh acknowledges that although the endometriosis map is not conclusive due to the small study size, it could help us better understand the cellular signatures of endometriosis, thereby potentially revealing new targets for treatment.
Fonseca, M.A.S., Haro, M., Wright, K.N. et al. Single-cell transcriptomic analysis of endometriosis. Nat Genet 55, 255–267 (2023). https://doi.org/10.1038/s41588-022-01254-1