Some really exciting research was published this week in Nature Genetics closing the gap for more personalised diagnostics and treatments of endometriosis.
Endometriosis affects over 175 million women across the globe and as you would have heard in our podcast with PCOS and endometriosis expert, Dr Stephanie Pirotta, despite its high prevalance - it is still a very challenging disorder to diagnose and manage.
Endometriosis is a condition in which the tissue that lines the uterus (the endometrium) grows outside of the uterus, most commonly on the ovaries, fallopian tubes, and other pelvic structures. This tissue continues to act as it normally would inside the uterus, thickening and shedding during the menstrual cycle. However, since this tissue has no way to exit the body, it can lead to the formation of cysts, adhesions, and scar tissue, which can cause pain and infertility.
Endometriosis is often difficult to diagnose because its symptoms can be similar to those of other conditions, such as pelvic inflammatory disease or ovarian cysts. Additionally, the severity of symptoms does not always correlate with the extent of the disease, and some women with advanced endometriosis may have few or no symptoms. Furthermore, it takes a long time for some women to develop the symptoms and it's often misdiagnosed as other conditions. This is why it may take several years for a woman to receive a proper diagnosis and proper treatment.
Tell me about the study?
Endometriosis has a variety of subgroups, including ovarian endometriosis (endometrioma), superficial peritoneal endometriosis and deep infiltrating endometriosis (affecting the abdominal cavity).
Researchers from California obtained tissue samples from 21 patients and analysed over 400,000 single cells from the three subgroups to determine whether each subgroup had a unique molecular signatures.
What is a molecular signature and Why is it important?
A molecular signature is a unique set of genes / biological information that is expressed in a particular cell type. It is like the fingerprint of that cell which represents the roadmap for all the activities that it can do. For example a skin cell has the capacity to be malleable, elastic and cover muscle. While a brain cell or neuron is gangly and allows electricity to fire threw it to signal with other cells. Each of these cells expresses a unique molecular signature to carry out their structure and function.
Once we understand a cell’s ‘normal’ molecular signature, we can then compare it with the ‘diseased’ or abnormal state and develop therapeutic targets to treat the disease.
What did the researchers discover?
The US-based team mapped the cellular changes from normal endometrium to the disease state - endometriosis. Further discovering that the different subgroups had “striking difference in gene expression [molecular signature], adding to a growing body of literature to support that endometriomas and peritoneal lesions are two distinct disease entities”.
These ‘biological road maps’ of cellular change, as well as the unique molecular signatures of the two disease subtypes can now be used by researchers across the world to begin further studies into more personalised therapeutics against endometriosis. Hopefully demystifying the challenging diagnosis and current treatment regime of surgery and hormone therapy, which have varying levels of success.