Lately I’ve been doing more digging into my genetic results from 23andme in search of an answer to that nagging question in the back of my mind…
Why do I have endometriosis?
I’ve always struggled with the fact that there is no known cause. This is, after all a big part of finding a solution… right?
This is a big reason why I find the genetic aspect so interesting. As I dig deeper into my personal code, I am piecing together a clearer understanding of why my body carries endometriosis.
Sulfation & Estrogen Metabolism
I listened to an interesting talk by Dr. Amy Yasko that helped me further piece together my genetic breakdowns in relation to estrogen metabolism.
She provided information on a key component to this: the sulfation process.
Sulfation regulates how much of these active estrogens are in your tissues. This includes the breakdown of estradiol, a highly active growth promoting hormone that stimulates endometriosis.
Your Liver & Estrogen Metabolism
Your liver is your primary site for sulfation, where synthesis and transformation of these estrogens takes place. To help visualize how this all goes down, I found a helpful diagram of the estrogen metabolism process here.
As you can see, the following genes are involved in the estrogen metabolism process:
Enzymes of the same name (SULT, CYP & COMP) encode these genes and carry out their roles along the way.
I have breakdowns in all three of these areas with two heterozygous mutations with SULT1A1 & one homozygous mutation with SULT2A1.
I have nine heterozygous mutations with my CYP gene variations and one homozygous breakdown. I also have two homozygous mutations with COMT.
Hence, my body has a lot of bumps along the way to breaking down estrogen and releasing it correctly out of my body.
The Role of Estrogen Sulfates
The process by which estrogens are released from your ovaries, and then transported to target tissues, is not fully understood, but an increasing body of scientific data believes that sulfation and desulfation of estrogen plays an important role.
SULTs (Sulfotransferases) are responsible for estrone and estradiol sulfation. Highest SULT activity happens in your liver.
In addition to your liver, estrogen SULT activity has also been found in a variety of tissues including those in your breasts, uterus, adrenal glands and small intestines. Estrogen SULT activity has also been found in the placenta.
Studies have suggested that factors involved in the stimulation of the estrogen sulfotransferases could provide new possibilities for the treatment of patients with hormone-dependent breast and endometrial cancers.
Wonder if the same would be true of endometrial implants? Seems this should be a key area of research.
What I gather from all of this is the cause and effect of my genetic breakdowns, assuming I have less enzymes to deactivate harmful estrogen from my tissues.
On the Positive Side?
I’ve been a bit overwhelmed by the data that I received from my 23andme testing. But I think that I’m slowly piecing things together.
While I don’t have a concrete solution to all this at this point, I’m starting to wrap my head around some of the biochemistry involved. I’m even able to comprehend the genetic articles in the scientific journals I come across, Lol.
I find it empowering to research and find these connections. Perhaps by sharing my personal discoveries I can help other endo sisters out there with similar genetic breakdowns.
Maybe together we can figure out our own “cause”.
There is a great company that I recently learned about called Juneau Biosciences who is doing a wide scale genetic study on endometriosis to see if they can detect patterns and trends.
Wonder if they’ve found any connections with SULT, CYP and COMT?
Have you done genetic testing? Do you have issues with SULT, CYP or COMT?
I’d love to hear from you.