The Genome and Microbiome Implications for Endometriosis’s Etiology

Endometriosis is a chronic illness that affects one in ten[1] women. Its medical definition is when endometrial tissue grows somewhere other than the uterus; endometrial tissue is the tissue that grows on the uterus that is shed during the monthly menstrual cycle. If it grows elsewhere, that person will experience a menstrual period inside their body, where the blood has nowhere to go, and instead creates inflammation. Although the disease impacts roughly 400 million people worldwide, our knowledge of the disease and its treatment is extremely limited beyond this definition.

It takes a median of 7.0 years[2] for someone to get diagnosed with endometriosis. This is because we can only identify the disease via a laparoscopic surgery (allowing the surgeon to see the abdominal region and note if endometrial tissue is present). Since endometriosis is difficult to identify, it is also difficult to study. Therefore, cheaper, quicker and more precise diagnostic tools could support thousands of people annually and help further the body of endometriosis science. To find new diagnostic tools, we must update our 100-year-old theories that still govern our hypotheses around the disease. We can do this through modern quantitative biology techniques in genetics and microbiome testing. Genetics is the study of our genes and the microbiome is the collection of microorganisms, like bacteria, in the body. Both of these topics have been traditionally omitted from our understanding of endometriosis, yet they likely affect the progression of the disease. Thus, this paper will explore how the genome and microbiome affect the formation of endometriosis and how this information can improve future diagnostic tests. To answer this question, I will first outline the definitions pertaining to endometriosis, theories on why it happens and how we diagnose it. Then, I will explore the genetic and microbiome research related to endometriosis. Finally, I will conclude the implications of genetics and metabolomics for informing future diagnostic methods.

The Basis of the Disease: Definition and Theories

A person with endometriosis has endometrial tissue growth outside of their uterus. “Endometrial tissue” is the blood-rich tissue that lines the uterus monthly and sheds during the menstrual period. The change in hormones (mainly progesterone and estrogen) during the menstrual cycle triggers the building and shedding of…