MTHFR and Pregnancy: What You Need to Know
Ahh MTHFR, one of the hottest topics in health and wellness these days. You may have heard of this strange acronym but unless you have a particular passion for biochemistry and genetics, you might not know more about it other than that it reminds you of a certain phrase that I’ve been known to mutter on occasion. If you are planning a pregnancy or currently pregnant, understanding what MTHFR is all about and how it can impact you and your baby is really important. This blog post will help you with the information you need to understand the connection between and implications of MTHFR and pregnancy.
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What is MTHFR?
MTHFR is an acronym that stands for methylenetetrahydrofolate reductase, a gene that resides in every cell of the body. If that name isn't complicated enough, MTHFR also refers to the enzyme (a protein that is involved in chemical reactions in the body) that is produced by the gene.
This MTHFR enzyme plays several really important roles in the body. For example:
it is involved in a series of chemical reactions that the body needs to perform in order to properly use the nutrient folate (also known as vitamin B9 or folic acid, its synthetic form). As a result of these reactions, folate gets converted into methylfolate, an “active” form of folate that your body can use
It is involved in transforming a by-product of these reactions (called homocysteine) into the amino acid methionine, which the body uses for a variety of different processes, included methylation. Methylation is important because it is responsible for genetic expression- the turning on and off of specific gene sequences- as well as for detoxification processes in the body (the ways that your body gets rid of toxins and waste products)
When the MTHFR gene is functionally properly, it produces well-formed MTHFR enzymes that help these important reactions proceed efficiently and properly. But when the gene doesn’t function properly, problems can arise.
The MTHFR Mutation
Sometimes, a mutation occurs in the MTHFR gene that causes it to function sub-optimally. We’ll get back to what that means in a minute, but first let’s take a deeper dive into what this mutation is all about.
There are 40+ known variations in the MTHFR gene, two of which we know can have a significant impact on human health. These have been given the oh-so interesting names of C677T and A1298C.
There are two important things to note here: First, MTHFR mutation is extremely common. Since testing for the MTHFR mutation is not all that widespread, it’s hard to say exactly how common the mutation is, but I’ve seen many sources estimate that around 50% of the human population have one or both of these two genetic mutations, with some estimates as high as 70%. But before you panic, here is the second thing to note: having the mutation simply means that you are potentially at risk of health complications, not definitely at risk.
So what exactly happens in a body that is impacted by the MTHFR mutation? Generally, the mutation results in a problem with the way that the MTHFR enzymes are formed: the gene still produces the enzymes, but they come out abnormally shaped and are therefore unable to function properly.
There are 3 main impacts of this that link back to the key roles that the MTHFR enzyme plays:
Folate may not get converted to methylfolate, resulting in a deficiency in this nutrient
Homocysteine may not be dealt with properly, resulting in an excess of homocysteine in the body
Methylation may not occur properly, impacting detoxification and the body’s ability to get rid of waste and toxins
These impacts can have a wide-ranging effect on the body, from problems with DNA synthesis to heart disease, blood clotting disorders, mental health disorders and cognitive dysfunction. And, most relevant here, is that these impacts can affect pregnancy health and fetal development.
MTHFR and Pregnancy
If you are planning a pregnancy or currently pregnant, it is important to be informed about the link between MTHFR and pregnancy. This is important not only if you have a confirmed mutation but also if you have not been tested and are unsure if you have the mutation or not, as you still may be affected and need to consider taking steps to mitigate those effects.
There are a few ways that the MTHFR mutation can impact pregnancy. Homocysteine overload has been linked to pregnancy complications, as has poorly-functioning detoxification.
But by far the most concerning link between MTHFR and pregnancy is the impact the mutation has on folate levels in the body. We’ve already discussed how the body needs properly-formed MTHFR enzymes in order to convert folate (or folic acid) into the methylfolate, the form that the body is best able to use. With MTHFR mutation, that conversion process may not happen properly, or even at all, and as a result your body may not get the folate it needs.
There are a wide range of side effects of these poorly-functioning bodily processes on your pregnancy. These include an increased risk of fertility problems, miscarriage, pregnancy induced hypertension (PIH), preeclampsia, placental abruption, and neural tube malformation in the fetus leading to birth defects such as spina bifida and cleft lip and palate.
Now, before the panic sets in, let me reiterate: having the MTFHR mutation only means that there is the possibility of these scary-sounding side effects, and there are absolutely steps you can take to reduce the risk. Read on to find out how you can do this.
Worried about the MTHFR Mutation and Pregnancy? Here’s what you can do
If you’re on your pregnancy journey, you’ve probably been told or read about the importance of folic acid during pregnancy, because of the crucial role it plays in baby’s neural tube development. But notice that I used the term folic acid- remember that this is the synthetic form of folate, and because it’s the cheapest version, it’s the one most commonly included in prenatal supplements. Because it is the synthetic form of folate, your body can’t use it as is: it must be converted into a more biologically available form, which requires properly-functioning MTHFR enzymes. With the MTHFR mutation, poorly-formed enzymes inhibit this conversion, which means that folic acid doesn’t get turned into the body’s usable form.
Tip 1: If you are planning a pregnancy or currently pregnant and you have a confirmed MTHFR mutation, or have not been tested and don’t know if you have the mutation, the #1 thing you can do to reduce your risk of complications and side effects is to take a supplement that contains methylated folate. This is the form of folate that your body is best able to use, so it essentially by-passes the folic acid-methylfolate conversion process that might not be functioning properly in your body and gets that essential folate to you and your baby.
Tip 2: While you’re at it, make sure that the other B vitamins in your supplement are also in methylated form, so they are also in the form most available to your body. You’ll need these as they play an important role in homocysteine, methylation, and detoxification regulation, as well as fetal development.
Tip 3: Include folate-rich foods in your diet. These include foods such as dark leafy greens, broccoli, legumes, avocado, and asparagus. While the body will still need to convert this type of folate into methylfolate, it is much easier for it to do so from this natural food form. However, studies have shown that eating a diet rich in folate is beneficial as the body can still access some of that folate.
Tip 4: Support your gut microbiome (those trillions of tiny bacteria that live in your gut), which plays an important role in your body’s ability to obtain nutrients such as folate from food. You can do this by eating a variety of fruits and vegetables, including fermented foods (sauerkraut, kimchi, miso, kombucha, kefir, etc.) in your diet, and taking a probiotic supplement.
Tip 5: Limit processed foods, refined sugar, alcohol, and caffeine. This helps to support homocysteine regulation, reduce the toxin burden in your body, and support your gut microbiome.
Tip 6: Ask your doctor to test you for the MTHFR mutation, as well as your levels of homocysteine, B12, and folate. This will give you a clearer picture of what is going on in your body, including whether or not MTHFR mutation is an issue of concern for you.
Tip 7: Work with a knowledgeable holistic nutritionist for dietary and nutrition support, as well as lifestyle support. If you’re concerned about MTHFR and pregnancy, or looking for nutrition and wellness support during your pregnancy journey, I’m here to help! Read more about how you can work with me here.