Fight the Fearmongers: MTHFR Gene Variants Are Nothing to Worry About

Professor Roy Benaroch, M.D.

Just because medical jargon sounds “sciency” doesn’t mean it’s going to kill you.

computer reproduction of double helix gene structure with one strain highlighted to suggest MTHFR variation
Despite some spurious claims, MTHFR gene variants are nothing to fear.

Another day, another scare.

Here’s one that came up a few times at my office this month: parents worried about MTHFR “mutations” that are making themselves and their children sick and vulnerable to all kinds of diseases. It’s another example of alarmists taking advantage of a tiny speck of science to scare you and sell things. Don’t believe any of it.

This article originally appeared in Professor Roy Benaroch’s blog, The Pediatric Insider.

Background: MTHFR stands for…. Ah, forget it. Who cares what it stands for. It’s a shorthand name for a gene that encodes a protein that does important things involving the metabolism of the vitamin folic acid.

It turns out that there are hundreds of variations in the MTHFR gene we all carry. Genes, actually, with an “s”—we all carry two copies. Some variations work more or less efficiently, and a few very rare ones don’t work well at all. But the important thing to remember is that these are examples of the normal variation of our species. Having a different MTHFR gene from your neighbor doesn’t make you strange or broken.

In fact, having these variations is very common—so common, that variation is the rule, not the exception. As we learn more about these variations, the percentage of people with “variants” continues to go up—maybe about 60% of us, now, have at least 1 copy of a “variant.” And since almost all of the variants work just fine, this doesn’t matter at all.

 Part of the problem comes from the language of genetics, and the way gene science is depicted in the media. Use the term “mutant” and you think Patrick Stewart lifting things with his mind. A mutant is changed gene—and in science, that term is used for one-time or rare events. These MTHFR things are NOT mutants, at least not in the way a genetic scientist would use the word. Having one of them will not give you a tail, allow you to change the weather, or make lasers shoot out of your eyes. It also won’t make you or your child more likely to get sick.

The correct, more-specific word for what I’ve been calling “variants” is “polymorphisms.” These are genes that are different in subtle ways, and have become fairly common in a population. Hint: if a polymorphism made you sick, people with it wouldn’t reproduce, and the polymorphism would become rarer. Polymorphisms that don’t change health (like these MTHFR polymorphisms) can spread and linger in a population, like blue eyes or the ability to taste a tiny speck of cilantro.

Nonetheless, there are scads of web sites out there pushing MTHFR testing, and trying to sell books and products to people with these polymorphisms (which, as I mentioned, are most of us.) This is called “fear-mongering”—creating fear of a non-existent disease to get attention and make money. I’m not going to link to any of these sites, but here’s a sampling of some of the headlines and what the sites are pushing:

  • The MTHFR Gene Mutation And How To Rewire Your Genetics – Note the use of the scare-word, mutation. And, of course, you cannot rewire your genetics. Nonetheless, this site pushes worthless genetic testing, suggests treating non-existent yeast infections, encourages the use of a dozen supplements you don’t need, and suggests “detoxing” with coconut charcoal. Absolute nonsense—all for a made-up health scare.
  • Someone calling themselves “Your Functional Medicine Expert ®” (followed by 16 letters—do not trust anyone who has more letters in their “degrees” than in their own name) has her own top ten list of things to do for what she calls your “mutation.” Some of these are perfectly healthy for all of us: get exercise, eat leafy greens, spend time in the sauna. But she goes off the rails, too, referring people to a “trained biologic dentist” and “dry skin brushing” to detox da chemicalz dat’ll killz ya.

There are also alt-med freakshow sites that somehow link MTHFR variants as a warning against (of course) vaccines. This is an absolute crock.

Bottom line: genuine medical geneticists do not recommend MTHFR testing. Just because something sounds sciency doesn’t mean it’s something that is going to kill you. Don’t worry about things because you read about them on the internet. Go hug your kids, enjoy some sunshine, and take a break from Facebook and the Interwebs. Their show is starting to get old, and you’ve got better and healthier things to do with your time.

Professor Roy Benaroch, M.D. is Adjunct Assistant Professor of Pediatrics at the Emory University School of Medicine
His lecture series Medical School for Everyone: Pediatrics Grand Rounds is now available to stream on The Great Courses Plus.
This content is for informational purposes only. Communicating via this post does NOT create a doctor-patient relationship. If you have a medical concern specific to your child, contact your own pediatrician.