Endometriosis Cause, Potential Treatment Identified in New Research; Genetic Analyses Conducted for Results

A new study recently conducted by Baylor College of Medicine, the University of Oxford, the University of Wisconsin-Madison, and Bayer AG offers a new understanding of treating endometriosis.

According to a Medical Xpress report, this debilitating disease is a painful, lingering condition in which tissue from the uterus grows improperly outside the uterus. Existing therapies are limited and comprise surgery and hormone treatment which can engage unwanted side effects.

The study authors carried out genetic analyses of humans and rhesus macaques to determine if a specific gene, NPSR1, increases the danger of suffering from endometriosis. The results showed a "potential new non-hormonal" drug target that may result in improved treatment.

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Research Involving 11,000 Women

The Oxford team, led by Dr. Krina Zondervan, the corresponding author, had formerly discovered a genetic association to endometriosis on chromosome 7p13-15 by assessing DNA from families that contain at least three women were diagnosed with the said illness.

On the other hand, the Baylor team, led by Dr. Jeffrey Rogers, the study's senior author, validated such a genetic association in the rhesus monkey's DNA with spontaneous endometriosis at the Wisconsin National Primate Research Center the University of Wisconsin-Madison.

Such a verification justified further research through detailed sequencing analysis of the endometriosis families at Oxford, which constricted the genetic cause to rare strains in the NPSR gene.

A similar EurekAlert! report said, most of the women who have these rare variants, this report specified, had stage III or IV disease. Similarly, the Baylor researchers sequenced rhesus monkeys and again exhibited suggestive evidence, also in the said species.

Lastly, a study by Oxford of over 11,000 women, including patients who have endometriosis, and healthy female individuals, identified a particular common strain in the NPSR1 gene, linked to stage III or IV endometriosis.

DNA Sequencing

Rogers, Baylor's Human Genome Sequencing Center associate professor said, this is one of the first examples of DNA sequencing in non-human primates to verify results in human research, not to mention the first to make a substantial effect on understanding the genetics of common, complicated metabolic illnesses.

The primate study, he complained, really helped in providing confidence at every step of the genetic analysis in humans and provided such a motivation to continue chasing the said genes.

The understandings shown in this genetic analysis refer to a potential new drug target. Researchers at Bayer, as part of this collaboration, in scientific alliance with Oxford University, used an NPSR1 inhibitor for the blocking of protein signaling of that gene in cellular assays, and then in rodent models of endometriosis.

As a result, the study authors discovered such treatment led to decreased inflammation and abnormal pain, therefore determining a target for future studies in treating endometriosis.

Promising New Treatments for Endometriosis

Referring to the finding of their study published in Science Translational Medicine, Rogers explained what they found is an exciting new development in their search for new therapies of endometriosis, earlier described and explained in Mayo Clinic as a debilitating and under-recognized illness that affects 190 million women globally.

He added that there is a need to conduct further research on the mechanism of action and the role of the genetic strains in the modulation of the impacts of the genes in specific tissues.

Meanwhile, Zondervan, the department of women's and reproductive head and professor of reproductive and genomic epidemiology and co-director of Oxford's Endometriosis CaRe, has a promising new non-hormonal target for further examination and development that seems to solve directly the inflammatory and pain components of the disorder.

Related information about endometriosis is shown on Covenant Health's Youtube video below: