Scientists Identify Gene Associated With Late‑Stage Endometriosis
In a long-overdue and groundbreaking study, scientists have zeroed in on the gene responsible for risks of developing advanced-stage endometriosis. The condition is incurable and inherited, and treating it has so far involved hormonal methods or surgery.
In a bid to explore non-invasive and non-hormonal therapies, researchers in a new study published last week in Science Translational Medicine have identified a new gene target for treatment. With the identification of the specific gene variant that is linked to endometriosis, future studies will test the effects of suppressing that particular gene to treat endometriosis and alleviate much suffering among patients.
The research took place in three stages before concluding. First, it began at the University of Oxford in 2015 with 32 participant families, where researchers found a link between Stage III and IV endometriosis and a particular region of chromosomes.
A subsequent study at the Baylor College of Medicine in Texas identified a variation of a particular gene — known as NPSR1 — within the chromosome region that was linked to endometriosis in 849 macaques, of which 135 developed spontaneous endometriosis.
Finally, back at Oxford, researchers studied the DNA of more than 11,000 women (and over 3,000 of whom had endometriosis) and found that the same gene variation was linked with stage III/IV endometriosis.
“This is one of the first examples of DNA sequencing in non-human primates to validate results in human studies and the first to make a significant impact on understanding the genetics of common, complex metabolic diseases,” said Jeffrey Rogers from the Baylor College of Medicine.
To study the implications of the findings, scientists suppressed the expression of the NPSR1 gene in mice after the researchers implanted uterine lining in their abdomens to simulate endometriosis. When the gene was suppressed, the mice indeed showed reduced inflammation and pain. This could pave the way for further clinical trials in macaques and, finally, humans, to address and alleviate the chronic pain that characterizes endometriosis.
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A limitation of the study, however, was that not every participant with endometriosis carried the NPSR1 gene. This means that any new drug developed to target the associated gene instead of hormones may not work for everyone. Still, the research is a significant step towards taking the often debilitating condition seriously in medicine. It is also a milestone in terms of taking pain seriously, something commonly associated with women and thus, ignored.
“This is an exciting new development in our quest for new treatments of endometriosis, a debilitating and underrecognized disease affecting 190 million women worldwide,” said Krina Zondervan, professor of reproductive and genomic epidemiology from the University of Oxford. Indeed, endometriosis often presents as a cluster of conditions and can severely impact the quality of life for sufferers, even impacting their careers. A previous study found a common genetic link between endometriosis, depression, and gastrointestinal disease. The lack of options for managing chronic pain and other symptoms has prompted individuals to seek alternative therapies, such as yoga or acupuncture, which give them more agency in the process.
But a lack of long-term treatments still constitutes a glaring gap in medicine. With the new research, scientists hope that medicine will catch up to the needs of reproductive and gynecological health.
“We have a promising new non-hormonal target for further investigation and development that appears to address directly the inflammatory and pain components of the disease,” Zondervan added