MTHFR Mutations: Do you have this hidden kryptonite?

Hi! My name is Melanie, and I’m MTHFR homogeneous A1298C! How about you?


A large percentage of us harbor variants of a genetic mutation which cause things in our body to go awry. Unfortunately, this isn’t some cool glitch which grants you superpowers, X-Men style. Rather, it’s a not-so-fun snag in your genetic coding, technically called a single nucleotide polymorphism (“SNP”). An MTHFR SNP, if you have it, affects every single one of your body’s 50+ trillion cells, and their ability to do fun stuff like methylate, detoxify, regulate neurotransmitters, and assimilate nutrients and energy. So. Many. Things.

Let’s break it all down, shall we? (Since our bodies may be failing a little bit in that area anyways.)


Methylation is a process in which the body passes methyl groups (1 carbon + 3 hydrogens) around. It happens 1,000,000,000+ times per second. That’s a lot of methylation going down. Methylation is super important for tons of processes in the body, including regulating ATP production, AKA: energy.

MTHFR mutations hinder your ability to properly methylate.  It’s sort of like money. If you’re in the US, a properly working MTHFR gene gives you the ability to transform say, euros into dollars. Money is money, but it’s only useful to you in a certain form. If you have an MTHFR mutation and don’t address it, you could effectively walk around with loads of cash in the form of euros, but be, for better or less, broke. When you can’t methylate efficiently, and turn vitamins into their properly usable forms (particularly folate and other B vitamins), then things can quickly go south. MTHFR mutations are associated with nasty things like chronic infections, allergies, miscarriages, addictions, autism, fibromyalgia, schizophrenia, depression, and cancer.


The MTHFR gene affects a lot of stuff, including all of the following:

  • Tells your body how to make the MeThylenetetraHydroFolate Reductase enzyme. This MTHFR enzyme helps your body process amino acids. If the enzyme is made improperly, as is the case with those with MTHFR mutations, then stuff in the body gets a little wonky (seeing as how we are made, in part, of amino acids!)
  • Helps your body properly use and assimilate folate (B9), by converting 5,10-methylenetetrahydrofolate into its activated form of 5-methyltetrahydrofolate (5-MTHF). You need the activated form of folate for lots of stuff, like synthesizing DNA and dealing with homocysteine. (See the next point!)
  • Helps your body convert homocysteine into methionine. High homocysteine levels = inflammation, and are associated with kidney disease, psoriasis, low thyroid levels, and cardiovascular disease.
  • Generating neurotransmitters. Undermetylaters and overmethylators can experience cognitive and mental problems when methylation is out of whack. (Oh hey anxiety or depression!)
  • Helps with cellular repair and detoxification. For things to run smoothly in your body, and not feel sluggish, gross, and crummy, you need a proper MTHFR gene. Hindered detox = more toxins in your body.  
  • Proper methylation is required for production of carnitine, CoQ10, ATP, and creating protective cushions for nerves. (Oh hey nerve pain!)
  • Ensures adequate levels of glutathione, a foundational antioxidant necessary for efficient functioning of, well, basically everything.
  • Helps your body generate proper levels of SAMe, which is necessary for breaking down hormones, proteins, and chemicals in the body, as well as histamine. (Oh hey allergies!)
  • Methylation also controls gene expression. A glitch in your MTHFR gene, can lead to more genetic problems down the line.


While a lot of things in this world can make you feel pretty crappy, here are some indicators you may have an MTHFR defect:

  • allergies
  • sensitivities to perfumes/ foods/scents/ everything under the sun
  • chronic fatigue
  • anxiety
  • light-headedness/ brain fog
  • folate deficiency
  • lots of other things


Given the fact that there are 20,373 base pairs of chromosomes in the MTHFR gene which could potentially go awry, MTHFR mutations are, unfortunately, not uncommon. An estimated 70% of the population has one mutation. Problems tend to arise, however,  when you get specific mutations, such as the highly studied C677T and A1298C variants. With these, you can be:

Heterozygous: you have one mutant copy of one of the genes
Homozygous: you have two mutant copies of one of the genes
Compound Heterozygous: you have one mutant copy of both genes

INTENSE SCIENTIFIC DETAILS PARAGRAPH ALERT: If you care about the specifics, the “normal” versions of these genes are MTHFR C677C and MTHFR A1298A. If one of the Cs is messed up on what should be MTHFR C677C (like MTHFR C677T), then you’d be Heterozygous MTHFR C677T. If both Cs are messed up (like MTHFR T677T), you’d be Homogenous MTHFR T677T, typically just called Homogenous MTHFR C677T. Likewise with the A1298A gene, if one of the As is messed up, you’d be Heterozygous MTHFR A1298C. If both Cs are messed up (like MTHFR C1298C), you’d be Homogenous MTHFR C1298C, typically called Homogenous MTHFR A1298C. (That’s me!) MTHFR C677T + MTHFR A1298C would be a Compound Heterozygous mutation.

(I cannot BELIEVE I just wrote all that out, given my limited genetic knowledge.) 

Thankfully, single heterozygous mutations, may minimally affect feelings of overall health. Heterozygous A1298C *seems* relatively benign for most people, though heterozygous C677T may be detrimental for folate methylation. The more nasty mutations to look out for, are Homozygous A1298C, Homozygous C677T, and Compound Heterozgous A1298C + C677T. In general, the A1298C defect is correlated with more neurological problems, while the C677T defect is associated with more cardiovascular and reproductive problems. Overall, C677T seems to be the most serious, though Homozygous A1298C isn’t very good either.


You can ask your doctor to run an MTHFR blood test. You can also do a 23andMe saliva test. (That’s on my personal to do list!)


While you can’t exactly rewrite your genes, you can address the misinformation being laid out by your genes. It’s like if you knew a teacher was teaching the wrong material, so you went and told everyone in the class the right stuff. Granted, it’s not easy breezy automatic, but it gets the job done! Once you start providing the ingredients needed for your methylation pathways, you can clear out the gunk and get things flowing properly again! To do this:

  1. Get B vitamins from whole foods, like meat and leafy green vegetables.
  2. Avoid folic acid, often rampant in processed foods, at all costs. (BAD! See below!)
  3. Take certain methylated vitamins, like methylated B12 (methylcobalamin) and methylated folate (i.e.: L-5-Methyltetrahydrofolate [L-5-MTHF], 6(S)-L-Methyltetrahydrofolate [6(S)-L-MTHF], or L-Methylfolate Calcium). These are vitamins in their bioavailable form – no methylation needed!
  4. Take regular doses of vitamin C, to support detox pathways.
  5. Limit your exposure to food and environmental toxins, and consider partaking in some fasting to further encourage detox. (I practice intermittent fasting every single day!)

DOSAGES: Doctors are quick to prescribe high dosages of folate. The commonly prescribed deplin, for example ranges from 7.5-15 mg of methylated folate. Even my doctor, who discovered my mutation, prescribed 10mg of folate for me. Research indicates, however, that starting with lower doses of folate may be best, as one can easily become overmethylated. Symptoms of overmethylation include: depression, paranoia, head and neck pain, histapenia, and intense rumiations. If you do suffer from overmethylation, consider reducing your supplementation, or supplementing with niacin, which can calm things down.

WARNING: When you start methylating properly (if you haven’t been before), then you’re going to massively increase your body’s ability to detox. While this is awesome, it may lead to temporary die-off symptoms as you shed toxins. It’s like going through and dealing with the nasty stuff at the back of your dirty closet. It’s not just gonna disappear – you’re gonna have to briefly deal with it.

MY REGIME: I currently take 1000 mcg of a sublingual b12 spray (Pure Advantage B-12 Methylcobalamin Spray), with 1 mg of methylated folate (Thorne Research – 5-MTHF Folate Supplement – 1 mg Folate), and am quite pleased with the results. I also just ordered HomocysteX Plus, developed by Dr. Ben Lynch, who runs, and which contains the proper forms of B12, Folate (B9), B6, B2, as well as TMG (Trimethylglycine), which aids the methylation process. I shall report back! Thorne Research also makes a methylated complex: “Methyl-Gaurd”.

Note: The B and C vitamins are water-soluble, meaning you can’t stock up on them. That’s why consistent supplementation is key!


If you have the MTHFR mutation and are struggling to get your folate, you might think folic acid supplements would be a good thing. THEY’RE NOT. While folic acid is often added to foods to provide folate, if you have the MTHFR mutation, you can’t process folic acid. Instead, folic acid blocks folate receptors, and builds up to potentially toxic levels. (This is yet another reason to avoid grains, which often have folic acid added.)

In our previously discussed money analogy, folic acid is like counterfeit money. You go around thinking you’ve got all this awesome money, but really.. you’re broke. Even worse, you’re doing yourself a disfavor by committing a crime. Serious. Problem.


Addressing my MTHFR mutation with methylated vitamins has been rocking my world. I seriously didn’t know it would be this effective. My eyes are becoming whiter, my digestion is improving, my bits of brain fog are disappearing, and my energy levels are rising considerably. I cannot express enough just how vital it is to address methylation issues!

Here’s a specific example: A few months ago, I tried supplementing with iodine to detox halogens (That’s a story for another day). Anyways, I woke up the next day with bloodshot, mucousy eyes. It literally scared me.  I had never seen my eyes like that. It was definitely from detoxing from the iodine. Now that I’ve been supplementing for MTHFR, and feel like I’m dealing with toxins much better, I hesitantly tried iodine again. I had absolutely no reaction whatsoever, and have continued with the iodine protocol. (I’ll leave that for another post!)


Finding out you have an MTHFR mutation can be pretty overwhelming. But trust me, you want to know. While the idea of supplementing with certain methylated vitamins everyday for the rest of your life may seem daunting, consider that you also need to eat everyday for the rest of your life, and no one’s complaining there! You just gotta do, what you gotta do!

You are not the sum of your genes. Well, maybe you are, but it isn’t exactly black and white. Genes are highly influenced by environmental factors: everything from the food you eat, to the stress you feel, to your toxin exposure, to the weather. If you give 10 different kids the same instructions and same supplies to build a birdhouse, chances are you’ll end up with 10 completely different birdhouses. Context. Is. Everything. So while one person may struggle with methylation due to immutable genetic factors, another could just as likely struggle with methylation due to poor lifestyle choices. Knowing you have a genetic mutation, puts you all the more in charge. It also may be the ammunition you need to take charge of your health.

Your body is made to run efficiently and beautifully, without constant struggle. Energy problems, toxicity, and feelings of malaise are signs that something is wrong. You may have these genetic mutations, unbeknownst to you, which you push through with sheer willpower. I applaud you! That was (and perhaps still is) me. The more we know, the more we can get our bodies into the perfect shape for performance. Why struggle unnecessarily if we don’t need to? I say accept your genes, and make them work for you, not against you! Maybe you can’t change your hardware, but you can most definitely reprogram the software.


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