MTHFR mutation, or How to Know if You’re a Mutant.

So, everyone kind of freaks out when I use a word like mutant because it sounds so sci-fi and X-men-ish but the MTHFR mutation doesn’t give us anything nearly so exotic as superpowers, more like just more of the usual problems. The thing is, we’re all mutants in one form or another. We all have a tremendous degree of genetic variability that gives us the amazing and awesome diversity of looks, personalities, traits and oddities that make us human. These mutations, or genetic variances, can make our enzyme processes work differently; meaning more slowly, more quickly or not at all. This is why some people are still doing great after five cocktails and others are bleary-eyed and drooling.

MTHFR gene mutations. Here portrayed, wildly inaccurately, as mutant carrots.

Behold the mutant carrots. Muah hah ha… Don’t worry, MTHFR mutations aren’t quite this funky.  Thanks to simply-sharon.com for the great photo.

For the most part, genetic variance creates relatively small changes because there are so many overlapping systems in the body. It’s all part of the great mystery – our bodies are designed with a plan A, plan B, plan C and probably the back-up super-secret plan X just to make sure everything goes right.  There are, of course, a few places where no matter how many overlapping systems we have, our bodies can’t compensate for how many little things have gone wrong.

One of the places this can happen is in the various genes for a process called “Methylation.”  Methylation, as you might have deduced, is the process where your body adds a -methyl group to some other molecule to help it become more active.  One of the most important places this happens is in the gene that methylates folate (the B vitamin) into it’s active form.  This group of genes are called “methylenetetrahydrofolate reductase,” or MTHFR for short. If you have too many genetic variances in these genes then you may not be able to activate your folic acid or other B vitamins.

MTHFR Mutation Problems Include:

  • High homocysteine levels in your blood and urine – this increases your risk for heart disease including high blood pressure, heart attack and stroke.
  • Increased risk of neural tube defects and preeclampsia if you become pregnant.  Neural tube is your baby’s brain and spinal cord so it isn’t generally an area you want to be defective.
  • Improper neurotransmitter production – this can lead to depression, anxiety, mood disorders and complex psychiatric illness.
  • Increased risk for the eye disorder glaucoma.




So – none of these complications are good things.  Generally they’re not issues you want to be dealing with in your life and certainly not a combination of them (bad enough to be depressed, but to be depressed with heart disease sounds worse). This leads to two questions, which naturally I will endeavor to answer for you.

Who Should Test for MTHFR?

MTHFR has a lot of variability and different people notice it in different ways. Usually I suggest testing for people who have had anxiety or depression since childhood, for people who have parents, siblings, children or themselves with spinal cord defects that might be related, or for people who have anxiety, depression or mood disorders “in the family.” This being a genetic mutation we usually see it show up in parents, aunts and uncles, siblings and children so if many people in the family are struggling then it’s time to look at your genes. Also if your homocysteine tests high at your doctors office even if you’re taking B vitamins then there’s a good chance there’s a problem.

How Do I know If I’m a MTHFR Mutant?

Great question! The best way to know, is to test. Your doctor can run a complete genetic analysis which will give you all of this information and is by far the best option if you have insurance.  This would also mean you could get a prescription methylfolate to help your body compensate.  If you don’t have insurance then there’s a great not-too-expensive way to do it at home, which comes with the added bonus of learning just how much neanderthal you have in you (I’m 3%!!!).  It’s called 23 and Me, and it’s an at-home saliva DNA test kit that gives you all kinds of great information about yourself like your neanderthal percentage, your ancestry, and also more serious things like your disease risk, certain gene markers for serious disease and also genetic differences that may cause you to react differently to certain drugs or chemicals.  All in all it’s pretty nifty.

Once you get your DNA info from 23 and Me, then you can plug it into the neatest service ever, which is donation based, called Genetic Genie.  Genetic Genie can run a full methylation analysis (for a suggested donation of $10).  I can tell you from looking at mine that this gives you an overwhelming amount of info and lots and lots of great ways to compensate for any genetic oddities you might find.

What Do I Do if I Have A MTHFR Mutation?

The short version is don’t worry, and take a methylated B vitamin.  This means the folic acid should be methyl-folate or some variation thereof, including L-5-Methyltetradydrofolate, L-5-Methyltetrahydrofolinic Acid, or 6(S)-5-methyltetrahydrofolic acid (the longer the word, the better apparently).  The B12 should be Methylcobalamin, and you may see something extra in there to just add extra methyl groups like trimethylglycine or betaine anhydrous.  Also, you should NOT take regular folic acid or anything that isn’t a methylated folate, simply because all of those will compete with the methylated folates and just continue the problem.  It isn’t always this simple because there are additional mutations that can interfere as well so some people have side effects when they take methylfolate, which you can read about here. If you find out you have an MTHFR mutation it’s not the end of the world, there is plenty we can do. It’s a good idea to check your kiddos too, or just switch them over to the methyl forms of B vitamins, and also if you have other genetic relatives who are struggling to pass on the good word about methylated B vitamins and your own new super-mutant status.



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