A recently published study has found genes specific to endometriosis that can serve as a potential target for a new non-hormonal drug.
Endometriosis affects approximately 176 million women globally. The chronic, painful condition occurs from the presence of endometrial tissue outside the uterus. Other than painful menstrual cycles, the disease can also cause fertility problems in women. Although retrograde menstruation is implicated as a major factor in its development, the exact cause remains unclear. The complex pathology, therefore, makes treating the disease more challenging. Current treatment options involve surgery or hormonal treatment; both of which carry considerable side effects. Moreover, they are not always effective. Therefore, there is a need for non-hormonal drug options for treating endometriosis.
In 2007, Dr. Krina Zondervan and her team discovered a genetic link to endometriosis on chromosome 7p13-15. The team had conducted genomic sequencing on DNA samples from 32 families which had at least 3 women with endometriosis. Now, a team at Baylor College of Medicine has further confirmed the results of that study and discovered a potential drug target for the disease.
Results Confirmed in Animal and Human Model
To verify the genetic linkage, the Baylor team conducted a genetic analysis of humans and rhesus macaques with spontaneous endometriosis. This revealed NPSR1 gene variants as possible culprits of the disease. Then, using a mouse model, the researchers tested the effect of NSPR1 protein inhibitors on the disease. They found that the treatment led to reduced pain and inflammation in mice with endometriosis. Thus, providing a possible target for future endometriosis drugs.
Although the study provides a promising non-hormonal treatment option, it also addresses a potential diagnostic approach. Currently, women wait for an average of seven years from the onset of symptoms before receiving a clinical diagnosis. This is despite the availability of screening tools and other diagnostic tests. Identification of the gene variant can help doctors diagnose the condition earlier in the disease, preventing complications in women.
Tapmeier, Thomas T., et al. “Neuropeptide s Receptor 1 Is a Nonhormonal Treatment Target IN ENDOMETRIOSIS.” Science Translational Medicine, vol. 13, no. 608, 2021, doi:10.1126/scitranslmed.abd6469.