My PCOS genetics [Part 3]
My PCOS genetics [Part 3]
What mutations do I have?
Hello all,
I want to wish you a lovely Easter holiday for those who are celebrating. If you are religious, this is a time for peace and reflection. If you are not, I hope you are having a lovely weekend.
There have been a few new subscribers in the past month, so I want to say WELCOME. This is a safe place where we can discover how our body works and make the most of this condition we were gifted: PCOS.
Back to GENETICS, I hope you have enjoyed reading about genetics in Part 1 and the mutation they found in those with PCOS in Part 2.
If you are in the ‘Yes, it’s fascinating group,’ I have partnered with Team Gene to create a custom report on some of the most important genetics relevant to PCOS. If you are interested, send me a message at francesca.abalasei@gmail.com. The report will include a consultation with me so you won’t be left in the dark.
My genetic variations
❌ - no variations have been found
✅ - there are some variants here
Hormones related genes:
Androgen Receptor Gene (AR) 🧬
I have a minor variation on this gene, but overall, it’s working well. I only have one out of the 14 possible variations.
Serum Sex Hormone-Binding Globulin (SHBG) ✅
I carry a variation on this gene, and we know that a lower level of SHGB allows testosterone to roam freely, creating a lot of havoc in our body.
CYP19 ✅
this gene helps testosterone convert to estrogen. This variation might make my hormone struggle to covert, leaving me in a high testosterone state.
CYP21A2 - ❌
This is the gene that codes the enzyme needed to make cortisol. I don’t have a variation on these; however, these enzymes are dependent on Iron, and I do carry a mutation in my iron metabolism, which puts me at risk of increased iron levels → Given that Iron might be high, I could be overstimulating this enzyme. On the other hand, if you are often deficient in iron, this can impact how well your hormones work.
DENND1A - ✅
this gene has been identified to be linked to PCOS, and I do have it. It’s not clear its role in the body.
Insulin Resistance Related Genes:
Adiponectin Gene G276T - ✅
Adiponectin is a circulating hormone secreted by adipose tissue that regulates glucose levels and increases insulin sensitivity. Bingo - I have this variation, which can explain why my body reacts so well to Inositol and other insulin-lowering agents
TCF7L2 - ✅
this is one of the genes strongly associated with type 2 diabetes, and I have a variation on this.
I have found many other mutations within my gene, but I will share more of them as we go along. These are, so far, the ones who have been mostly associated with PCOS in research.
Genes I don’t have mutations on:
FTO - obesity gene - ❌
THADA - insulin resistance - ❌
CYP17 - conversion of cholesterol to testosterone ❌
LHCGR - Leutenising hormone ❌
FSHR - Follicle stimulating hormone ❌
What do I do with this information?
You might be wondering, why should I know about these things?
All of these genes rely on micronutrients to function. This is the world of nutrigenomics—the study of nutritional factors that interfere with or protect genetics from damage. This means that we can support all of these genes with our diets. This is why I always tell you what we eat is very important. Not the calories but the nutritional content of foods.
Some examples:
Example 1: I am much more susceptible to higher insulin levels. This makes me choose a diet that doesn’t spike my glucose levels too much and supplement accordingly.
Example 2: my testosterone might struggle to convert to estrogen (CYP19). This conversion depends on certain micronutrients: Vitamin D, Zinc, Magnesium and flavonoid antioxidants. I need to ensure my body is not deficient in these to support this gene to do its best.
I hope you have enjoyed this sneak peek into my body. You know my genetics now; this relationship has just become deeper 😂.
Have a lovely weekend, and see you next Sunday.
Francesca
If you want to chat about your PCOS, work with me or fancy connecting with someone who understands, book a chat with me here for free.
Disclaimer: We are all unique in our ways, so this information is for educational purposes only. In my communications, I summarise research data and bring my experience. This shouldn’t be viewed as medical advice at any point. Please further consult your healthcare provider about your health needs.