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A novel endometriosis blood test

Image credit: National Cancer Institute

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Jamila
Jamila Feb 01, 2021
Developing novel diagnostic tools to identify endometriosis.

Background
Endometriosis is a health condition that impacts 10% of women, that's roughly 176 million women worldwide. In endometriosis, the tissue that lines the womb begins to grow on the ovaries, bowels, or fallopian tubes. This endometrial tissue grows and breaks down during the normal menstrual cycle. When the endometrial tissue breaks down, it bleeds, causing scar tissue to form, inflammation, and horrendous pain.

The symptoms of endometriosis can include:
  • Pelvic pain
  • Feeling tired
  • Dyspareunia
  • Heavy bleeding
  • Problems with conceiving
The current endometriosis diagnostics are lacking. Apparently, it takes on average 7.5 years from the first appointment to get diagnosed with endometriosis. There is a great need to improve endometriosis diagnostic tools to reduce the time it takes to diagnose and subsequently treat the patients as endometriosis can significantly impact daily activities.

The current tools used to diagnose endometriosis are laparoscopy, ultrasound, or in rare cases, an MRI.

❌ Laparoscopy - is the main tool used to diagnose endometriosis. It is a highly invasive procedure that some women may not be able to undergo.
❌ Ultrasound - is less invasive, but an ultrasound cannot pick up small endometrial lesions, only the large ones.
❌ MRI - is not widely used because it's expensive.

The idea
A comprehensive blood test that can diagnose endometriosis and distinguish between the different endometriosis stages without requiring a laparoscopy.

The potential biomarkers we could include in the endometriosis blood test:
  • CA-125 - ⬆️ High CA-125 levels were reported in endometriosis patients.
  • BDNF - ⬆️ High BDNF levels in endometriosis patients. Plasma BDNF levels correlate with pain severity.
  • MicroRNA - ⬆️ 4 microRNA levels were increased: miR-125b-5p, miR-150-5p, miR-342-3p, and miR-451a. ⬇️ 2 microRNA levels were reduced: miR-3613-5p and let-7b in endometriosis patients.
  • Leptin - ⬆️ High Leptin levels in endometriosis patients compared with controls. Furthermore, Leptin levels increased with clinical staging. Therefore, Leptin can be used to determine the severity of endometriosis.

Can you think of any other biomarkers for the endometriosis blood test? What do you think about the idea?

[1]Karimi-Zarchi, Mojgan, et al. "Correlation of CA-125 serum level and clinico-pathological characteristic of patients with endometriosis." International Journal of Reproductive BioMedicine 14.11 (2016): 713.

[2]Perricos, Alexandra, et al. "Increased serum levels of mBDNF in women with minimal and mild endometriosis have no predictive power for the disease." Experimental Biology and Medicine 243.1 (2018): 50-56.

[3]Moustafa, Sarah, et al. "Accurate diagnosis of endometriosis using serum microRNAs." American journal of obstetrics and gynecology 223.4 (2020): 557-e1.

[4]Hussein, Shatha Sami, Fatin Shallal Farhan, and Alaa Ibrahim Ali. "Serum Leptin as a Marker for Severity of Endometriosis." Obstetrics and Gynecology International 2020 (2020).

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General comments

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Povilas S
Povilas S6 months ago
Just stumbled upon this article about students developing an endometriosis test which would use samples of a menstrual fluid: https://www.msn.com/en-us/health/medical/ur-students-develop-noninvasive-endometriosis-test-now-they-just-have-to-break-the-stigma/ar-BB1er0gR
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Dragan Otasevic
Dragan Otasevic8 months ago
Jamila this idea easily fits on the list of top biotech startup ideas https://brainstorming.com/sessions/a-growing-list-of-top-biotech-startup-ideas/51
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Shubhankar Kulkarni
Shubhankar Kulkarni8 months ago
Great idea Jamila ! In addition to the set of genes you have posted in the session text that can be used as biomarkers for diagnosing endometriosis, this paper offers some (https://academic.oup.com/endo/article/148/8/3814/2502189). They studied the entire transcriptome and compared those of women with and without endometriosis. They saw changes in a number of genes. For the full set of genes, please take a look at the paper. I will mention a few genes here whose mRNA levels changed more than 5-fold in women with endometriosis, which is highly significant.

Genes that were upregulated in women with endometriosis:
Topoisomerase (DNA) IIα, 170 kDa
RAB6 interacting, kinesin-like
Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B
Proenkephalin
T-LAK cell-originated protein kinase

Genes that were downregulated in women with endometriosis:
Metallothionein 1Y
CXCL13: chemokine ligand 13 (B-cell chemoattractant)
Cytochrome P450, subfamily XXVIA
Secretoglobin, family 2A, member 2
Metallothionein 1G

As an alternative to the blood test, the transcripts can be tagged with a dye (https://www.researchgate.net/publication/6226209_Cell-specific_microarray_profiling_experiments_reveal_a_comprehensive_picture_of_gene_expression_in_the_C_elegans_nervous_system/figures?lo=1, https://www.biorxiv.org/content/biorxiv/early/2018/03/30/292441.full.pdf). The solution that contains the dye attached to a reverse transcript of the one of interest can be ingested and the radiography can reveal the concentration (severity or the phase of endometriosis) and the location (outside the uterus, fallopian tubes, ovaries, etc.)