Tag Archives: mthfr mutation basics

All possible variations of MTHFR gene combinations.

Understanding the MTHFR Mutation Basics

I’m amazed at how many people are coming into my office with MTHFR mutations, and also at how difficult it can be to actually understand the MTHFR mutation basics. So let’s start from the beginning and go from there.

What is MTHFR? Why Do I Keep Hearing About It?

MTHFR, just to be confusing, is the name of both a gene and the enzyme which that gene helps your body to make. We call it MTHFR because the actual name, methylenetetrahydrofolate reductase, is just ridiculously long and cumbersome. This enzyme helps your body to methylate. If your genes have a mutation it means that the enzyme they’re supposed to make turns out just a little bit wrong.  You still make the enzyme it just isn’t exactly the right shape and so it works differently from normal. It’s become kind of a buzzword these days simply because we’re discovering that it is more common than we thought and if you happen to be a mutant (like I am) then you may be at greater risk for a number of health problems. We’ll get to those in a second.

What Does the MTHFR Enzyme Do?

The short answer is that this enzyme methylates. Since the short answer sounds like something nobody cares about, let’s also talk about a long answer.  Methylation means that you add a “methyl group” which is essentially a carbon bonded to three hydrogen that looks, appropriately, like mutant mickey mouse ears. This sounds highly anticlimactic, but actually helps your body to do almost everything, like replicating and using your DNA, activating your B vitamins, detoxifying toxic substances and a whole host of other things.

What Are The Possible MTHFR Mutations?

There are TWO MTHFR genes, the MTHFR-C gene and the MTHFR-A gene and you have two copies of each of these (one from your mother and one from your father). This means there is a whole variety of ways that things could go wrong… Let’s look at those here:

ossible good and bad copies of the MTHFR gene

Possible good and bad copies of the MTHFR gene

This means that there are two genes, each with two copies and you could have good or bad copies of one or both… So:

All possible variations of MTHFR gene combinations.

All possible variations of MTHFR gene combinations.

The basic rule is that the more bad copies of the gene you have, the more likely you are to have negative health effects from those genes. The good news is the more bad copies of the gene you have, the more benefit you can get out of working to improve your body’s methylation ability.

Can I Fix a MTHFR Gene Mutation?

Yes and no. You are born with a set of genes and you’ll die with the same set – nothing can change your genes.  That sounds like bad news, but the good news is that we can get around a slow enzyme pathway – usually by supplementing the methylated form of B vitamins (so that it doesn’t matter if your genes can’t convert them) and also methyl donors. MTHFR mutation can make your life miserable, but if you learn to deal with it correctly it can also be overcome.

Poor methylation is becoming a common topic in medicine simply because we’re realizing how common these mutations really are and how great an impact on health they have.  Learn more about some of the conditions caused by this mutation here, and about some of the problems you can run into taking methylated B vitamins here.  There is so much more to this story, but at least we’ve covered the MTHFR mutation basics here. If you suspect a problem, get tested and talk with a doctor who knows about it because that will be the quickest path forward.