Mutant MTHFR

Last week when I saw the Doc, they ran a blood test for MTHFR Gene Mutation. In medical terms, this stands for Methylenetetrahydrofolate reductase. In my head is stands for the MoTHerFuckeR gene. It turns out I am officially a mutant.


The MTHFR gene allows our bodies to metabolize folate. With this mutation, it means that most (40-70%) of the folate I swallow, whether from food or in vitamin form, will just pass right through me. While this on it’s own isn’t much to talk about, the negative ripple effects are rather impressive.

For starters, not enough folic acid during pregnancy can cause major neural tube birth defects like spina bifida, anacephaly, preeclampsia and miscarriage. MTHFR Gene Mutation can cause challenges with neurotransmitter functions, negatively effecting mood, energy and memory, and has been connected to autism and Alzheimer’s. It can cause challenges with detoxification, DNA synthesis and immune function. It is also correlated with cardiovascular disease, high blood pressure, glaucoma, clotting issues, asthma, and bladder/prostate cancers, (here is the long list!) depending on which version of this fun mutation you have… There are more than 50 variances of the gene mutation, all labelled with fun numbers and letters.

Up to 20% of the population have the gene mutation, and as with any gene related deal, it runs in the family. So is it from my mother or father or both? Did my paternal grandmother, who succumbed to bladder cancer, have it? Does my autistic niece have it? This will be quite the conversation…

But the truth is that I am psyched! Seriously! This could be the root cause of my depression, fatigue and brain fog that I have been fighting since college. This could be the reason for my miscarriage. And who knows what else could source from this wiggle in my DNA.

I am psyched because this is an easy fix. There are a good handful of “medicinal food” supplements that provide methylfolate (the version of folate that is friendly to us Motherfucker Mutants). I started on a 6-day sample pack today while I investigate if my insurance will cover this prescription. Specifically, I am taking Deplin, which supports anti-depressant medications and promises to lighten the dark cloud that is always threatening above my head. Apparently it works very quickly, within a day or two, so I will keep you posted. Of course, this will also support my efforts to get pregnant. Yay!

Anyone out there have any experience with this???

I sourced a lot of my info from this really helpful blog:

Author: Eggs Over Easy

My eggs refuse to take the easy path. IVF is looming. This blog is about cooking a baby the hard way and state of my messy brain.

One thought on “Mutant MTHFR”

  1. oh that’s good to have something to fix! A friend of mine found out she had it after her first or second failed IVF. She started taking folic acid in a different form so her body could absorb it better. She also tried to avoid BPA by avoiding tins, buying things in cartoons instead, stuff like that. Anyway her third IVF was successful. Wishing you lots of luck going forward! I’m in the middle of the two week wait for our fourth IVF now.


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