The MTHFR Gene & Why It Matters


David and I had genetic testing done with 23andMe (which I highly recommend since it’s the most affordable option). Our results revealed why Brielle has anencephaly. David and I both have a genetic mutation called MTHFR. I have one copy of the C677T gene and one copy of the A1298C gene. David has two copies of the C677T gene. I’ll go into how this caused Brielle’s anencephaly, but first I want to talk about the part that is applicable to everyone else.

Everyone who reads this should note, nearly half of the population has one copy the C677T gene and/or one copy of the A1298C gene. So you have a 50/50 chance of having this gene, which means no one is exempt from this. David’s gene is rare, he is homozygous, meaning he has two copies, one from each parent. Having two copies only occurs in about 8-11% of the population.

Now what does this gene do? Obviously, it plays a role in neural tube defects. I’ve attached a picture that lists some of the conditions caused by this gene. But how does it work to basically mess up everything in our bodies?

The MTHFR gene metabolizes folic acid. Folic acid is a B vitamin an essential building block. David’s gene has a 10-20% efficiency in processing folic acid, my copy (the most common) has a 60% efficiency in processing folic acid. A1298C has not been as widely studied as C677T, so I’m not sure what it is or isn’t processing. Folic acid cannot be properly metabolized, so what does that cause? Here’s an excerpt from NIH:

“MTHFR gene mutation is a genetic change that disrupts the production of an enzyme that plays an important role in breaking down the amino acid homocysteine (a building block of protein). These mutations may cause a mild to severe loss of activity of this enzyme that can lead to elevated levels of homocysteine in the blood and/or urine.”

Having too much homocysteine in the body begins to damage the body and that damage leads to Alzheimer’s, cardiovascular disease, neural tube defects, hypertension, diabetes, autism, depression, schizophrenia, cancer, down syndrome, infertility, miscarriage, etc. The body can’t rid itself of the elevated homocysteine levels, because the gene that regulates that part is mutated or even broken.

Combine David’s gene and my genes and we have a really high chance for having children with neural tube defects. And this is the frustrating part. Most doctors and geneticists do not know much about this mutation. They might even tell you it’s nothing to worry about. It totally is. If they tell you that, ignore them and find a better doctor or provide that physician with information about this gene. Especially if you are of childbearing age. There are a lot of “doctors” claiming they can help with this mutation online, but most of them are using the situation to make a profit. So how in the world do you treat this mutation if no one knows anything about it? Well, I’m still answering that question myself. But here is what I do know.

Folic acid is in just about everything. The FDA requires that it be added to processed foods to prevent neural tube defects. But if you have an MTHFR mutation, you need to avoid folic acid. So you have to avoid processed foods, like bread, cereal, oatmeal, etc. Birth control is to be avoided as well. Folic acid is everywhere. It’s also in nearly all multivitamins, you can’t have those multivitamins anymore. Especially if you are trying to conceive. It is a serious headache, how do you avoid something that is everywhere?

But you still need folic acid, or rather folate. Folic acid is the synthetic form of folate. Folate is the organic form found in nature. You can take a supplement of methylfolate and that will process the remaining folic acid and lower the homocysteine levels in the body. But I don’t know the proper dose, and I’ve heard warnings that you want to start out with low doses to lower the stress of this process on the body. After Brielle is born, I’ll be speaking with a geneticist about all of this and will hopefully learn more.

Side note: I took 1,000 mcg of folic acid daily during my pregnancy (400 mcg is the recommended level). My blood work always revealed that I had great folic acid levels. Well now I know that of course I did, I wasn’t metabolizing it, it’s just hanging out in my body. So if you have this gene, you may think you’re doing great because your levels are great. In this case, medicine has yet to catch up with genetic research.

If you are trying to conceive, I would have both the mother and father tested. I don’t want anyone else to go through what David and I are going through. And this is something you can at least be prepared for. And I’d caution internet research, there is a lot of misinformation online about MTHFR.


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