Understanding MTHFR

What is MTHFR—and no it’s not a swear word…

Technically:

The letters stand for an enzyme called Methylene Tetra Hydro Folate Reductase, which is coded by a gene in our DNA that is referred to by the same name.

Less technical:

Factories running programs dictated by software

Your body is made up of lots and lots of cells, and these cells are like little factories that run all sorts of programs. Those programs are what allows you to move around, think about things, and even dictate how you feel about something.

However, the programs are only as good as the software that writes them, and sometimes the software can have a few misspellings.

Wow—that was a lot of analogy, but hopefully it makes sense. Let’s keep going with it.

 

MTHFR is a piece of software that is written into several programs that helps our body utilize one of the B vitamins—namely folic acid (aka folate).

Wait… why do we care again?

Well, one of the outcomes of this piece of software working well is the production of a number of neurotransmitters.

Think of neurotransmitters as one of those program end products coming out a neurotransmitter factory (or cell, but you get the idea). These end products are responsible for how balanced our emotions are.

So if the software is not working at 100% then we can end up feeling too sad or too anxious (or even too happy—whoever those lucky people are). MTHFR is now thought to be part of the puzzle of why some mood disorders run in families.

Another outcome is the clearance of a waste material from making other functional products. Sort of like how you always end up with scraps on the floor when you’re cooking or wrapping presents (or is that just me?).

 

The scraps are called homocysteine, and is a recyclable product, able to be picked up and turned back into something useful. However, for all the scraps to be picked up MTHFR needs to be working well.

Otherwise we end up with high levels of homocysteine in the blood. This then leads to your blood vessels being damaged, leading to inflammation (your body’s repair program), which can cause clots to happen.

Clots can become dislodged and then travel to smaller blood vessels, thus causing a blockage, sometimes leading to ischemic heart disease and strokes. This is one of the main reasons for screening and treating MTHFR variation, and one possible reason behind some families having early onset heart disease.

What if I have a problem with the gene that makes MTHFR?

This piece of software actually has a couple backups, or rather there are a couple variations of this software doing the same thing. And for each variation we get two copies—one from mom, and one from dad. About 40% of the population have a mutation in one of those genes. Another 30% of the population have a mutation in more than one gene.

 

So what does that mean if you have one or multiple mutations? It means the factories running these programs are working at a slower capacity; turning out products slowly and not cleaning up the factory floor very quickly.

What should I do?

Most the time you can simply help out the factories by sending in the missing piece. This means taking activated folic acid, also known as methylated folate or methyl B9. But unfortunately this doesn’t always work.

 

The problem is that MTHFR is only one piece of software in that program, and if you look at the diagram below, there are lots of other pieces.

Some people have variations in the way they break down neurotransmitters, or they have a problem working with another B vitamin (B12).

I often recommend that if you have a family history of early heart disease, or a strong family history of anxiety and depression, that you get your whole genome tested and evaluated by a doctor to determine the best mix of vitamins for you. For more information about your own genes, click the link below and make an appointment with our office. Thanks for reading!!

Here is a nice British guy talking about methylation and MTHFR