I’ll admit, I thought it was the first time I read it, but as it turns out it’s something much more important. MTHFR is an abbreviation for a genetic mutation that affects 30-50% of our population, although most of us don’t know whether or not we have it….
So what is MTHFR, exactly?
Ahhh, good question. Before we jump in, let me just say that this “Beginner’s Guide” is simply an overview of the issue from my perspective as someone who has MTHFR. I’m not a genetic expert, but I do link to resources created by experts at the bottom of this post. Now, let’s get started . . .
Imagine one of the recipes in your DNA cookbook is for mayo, except the instructions got a little garbled and you ended up with something that is almost like mayo, but not quite. Every other dish in the cookbook that calls for mayo would be affected, right? That’s essentially what a mutation is – a slight change to the instructions that can have sometimes small, sometimes significant impacts on other recipes.
MTHFR specifically is a gene that holds the recipe for methylenetetrahydrofolate reductase – an enzyme that helps our bodies convert vitamin B9 (also known as folate) into a usable form called methylfolate. This process is called methylation.
Now, if you’re thinking, “Oh, no problem! There’s folate in my multi-vitamin,” it’s important to note that the “folate” in most foods and vitamins is folic acid, which researchers believe is harmful to those with MTHFR gene mutations. (More on that later)
What’s the big deal about MTHFR mutations?
When the MTHFR gene is functioning properly, it’s highly efficient at helping our bodies convert vitamin B9 (folate) into a usable form called methylfolate. When the gene is mutated, this capacity to convert vitamin B9 into methylfolate is reduced by 40-70%.
That’s HUGE, because converting folate into a useable form is essential for DNA synthesis and repair, neurotransmitter production, detoxification, and immune function. (source)
Researchers are just beginning to study the connection between MTHFR mutations and different conditions, but so far it has found an association with quite a few. Here’s a short list of conditions that have been studied:
- Tongue and lip ties (Though not necessarily severe, I mention them because discovering that my children were tongue and lip tied was my first hint that I needed to be tested for MTHFR.)
- Heart disease (source)
- Alzheimer’s (source)
- Depression (source)
- Recurrent miscarriage (source)
- Asthma (source)
- Prostate cancer (source)
- Bladder cancer (source)
- Multiple Sclerosis-like symptoms (source)
Dr. Ben Lynch, who is considered one of the foremost experts in the field of MTHFR genetic mutations, has a more complete list here. (See the third paragraph for a link to additional supporting research.)
Are all MTHFR mutations the same?
No. There are over fifty types of MTHFR gene mutations . . . possibly more that have yet to be discovered. However, the two that are most commonly studied and tested for are C677T and A1298C.
Let’s look at the C677T mutation for a moment. Because we inherit one copy of each gene from our mother and father, that means that for those that have the C677T mutation there are two possibilities. They can be:
- Heterozygous – having one copy of the C677T mutation and one normal copy
- Homozygous – having two copies of the C677T mutation
According to Dr. Ben Lynch, individuals who are:
- Homozygous for C677T have an estimated 70% loss of function
- Heterozygous for C677T have an estimated 40% loss of function
There is a lot of debate about whether those with the A1298C mutation experience diminished function. Some say no, but based on what I’ve read of Dr. Lynch’s work he seems convinced that it can in certain circumstances. (source)
In cases where an individual is compound heterozygous – having one one C677T mutation and one A1298C mutation – there is an estimated 50% loss of function. (source) …
It’s also strongly correlated with vulnerability to vaccine-induced autism, yet doctors STILL don’t screen for this condition before injecting children with mercury and/or aluminum containing vaccines. See: