What MTHFR Has to Do With our Health Journey

If you've been here for a little while, you'll know that when I dive into something (by choice or not), that I go all in. Well, this is one of those situations.

When Bubs was diagnosed with extreme oral ties, I needed to know why. I have quickly become a holistic-health, root-cause mama, and I was determined to learn why him, and so many babies today, are dealing with tongue ties. Spoiler alert: just as with autism, ADHD, mental illness, and cancer, it has nothing to do with "having better technology to better recognize/detect it" like we've been led to believe.

I will preface this entire post by saying that I am not a health professional or practitioner. The information I am sharing is based on independent research through peer reviewed articles, Naturopathic Medical Doctors, etc.

What is MTHFR?

MTHFR stands for Methylenetetrahydrofolate Reductase. Simply put, it is a key regulatory enzyme in the metabolism of folate. It also refers to the gene that specifically plays a major role in the body's methylation process. Methylation is a chemical modification of DNA and other molecules that may be retained as cells divide to make more cells. When found in DNA, methylation can alter gene expression. In this process, chemical tags called methyl groups attach to a particular location within DNA where they turn a gene on or off, thereby regulating the production of proteins that the gene encodes.

Both the enzyme and the gene have the same name, MTHFR. When people talk about MTHFR today, they are typically referring to neither the gene nor the enzyme, but instead the gene mutations that cause the enzyme to become imperfect and much less effective in the body.

What Exactly Does MTHFR Do?

This is going to be a whole lotta science mumbo-jumbo... you've been warned! The simplest terms if you don't want to read the science-y words: MTHFR prevents natural folate (folic acid is the artificial form and not easily absorbed and used by the body) from binding to receptors in a way that is preventative for neural tube defects and is essential in the promotion of proper growth and development in the nervous system.

The research done by the Human Genome Project uncovered as many as 60+ variants of the MTHFR gene. The most popular were discovered in 1995 and 2001... so why are we just hearing about them now? And a better question... why is the info being covered up by the people who are in charge of our health?

MTHFR SNPs (or Single Nucleotide Polymorphisms) are often referred to as ‘mutations’ or ‘defects’ because of the problems they cause in the body. MTHFR most often refers to the two most well-known genetic SNPs (677 and 1298) that inhibit the ability of the body to methylate (or convert folate into L-5-Methyltetrahydrofolate - which the body requires for absorption and direct use). Instead, these mutations make imperfect folate coenzymes which don't work properly to generate all of the important downstream processes like:

• Synthesize DNA to regulate gene expression

• Develop a healthy central nervous system

• Promote balanced neurotransmitters like serotonin

• Protect neurons by generating myelin

• Regulate homocysteine levels for cardiovascular health

• Produce glutathione for detoxification

• Support healthy pregnancy and fetal development

• And many more ...

At the crux of it, the body has trouble converting folate from the food we eat into methylfolate (L-5-MTHF), the bioavailable folate enzyme needed to optimize health. The truth is, our cells cannot actually use folic acid directly. Upon ingestion, folate must go through a 4-step process (called a metabolic pathway) in order to be converted into methylfolate, which is the “active” or usable form of folate that our body’s cells require.

The MTHFR gene defect inhibits this metabolic pathway and prevents our cells from getting the methylfolate they need.

How Do You Get the MTHFR Gene Mutation?

The MTHFR gene mutation is genetic. It is passed down from one or both of your parents. Now the question becomes, why is the MTHFR gene mutation something we are just worried about now if it is something that has been around for generations?

The problem with the MTHFR gene mutation is that the bodily functions that rely on folate metabolism affect development, detoxification, the nervous system, neurotransmitters, etc.

Of specific interest is detoxification, as detoxification also impacts all other areas mentioned. The reason we're seeing more and more issues with MTHFR is because we are exposed to so many more toxins on a daily basis than we once were.

Health Implications for Those With The MTHFR Gene Mutation

The process of methylation affects the body's natural detoxification process controlling oxidation immune function including autoimmunity, formation of neurotransmitters, energy production, inflammation and other critical functions.

We have been working hard on detoxification since we have seen it impacting our son's development. The MTHFR gene mutation makes natural detoxification very hard. Heavy metals, parasites, mold, allergens… everything. As a result, these things can cause many health implications. The fact of the matter is, we are surrounded by toxins all day, every day. It is our body's job to help filter those out of our system the best it can. The MTHFR mutation makes this harder to do.

Having an MTHFR gene mutation also increases the risk of miscarriages, fatigue, anxiety and depression, histamine, migraines, abnormal cells from HPV, certain types of cancer, nob-alcoholic fatty liver disease (NAFLD), and more.

It also has a significant impact on pregnancy and developing fetuses. I have included an entire section below with more information, but here is why I started looking into this more and more.

The MTHFR gene mutation became of interest of mine when our son's extreme oral ties were "unexplained". Turns out there is significant research surround the methylation of folic acid and the MTHFR gene mutation and midline defects such as oral ties, cleft palate, neural tube defect, hypoplasia, gastroschisis, renal abnormalities, and more. Folic acid (the synthetic form of folate) binds to receptors we have in our body that methylate the folic acid into the usable form, folate, which is used in important processes in our body. When MTHFR is present, folic acid is not able to be methylated and it binds to the receptors and blocks uptake of folate completely.

To validate these signs and symptoms, here's a summary of the problems and defects we have seen in our son so far (he is currently 2 years old) that are related to the MTHFR gene mutation:

• He was born with "the worst oral function [our SLP and dental specialist] had ever seen in an infant".

• He has had developmental delays right from the start of his life and we've worked with a pediatric physio therapist for rolling, crawling, pulling to stand, and walking. We're also on the waitlist for Speech Therapy.

• He was born with an ear tag. It is a very large "skin tag" on his right ear. He has had to have a few ultrasounds on his kidneys because ear and kidney development are closely linked, and often a malformation in the ear is a sign of a defect in the kidney(s).

• He has been diagnosed with FPIES (Food Protein-Induced Enterocolitis Syndrome) which is a non-IgE allergy, also known as a histamine reaction.

• He was born with Neonatal Hyperbilirubinemia, which basically means he had dangerously high levels of bilirubin in his system. What was most concerning for our doctors was that his levels were not decreasing as they should. In retrospect, I know now that it was because his body's detoxification processes are unable to function properly. His body had to work very hard to filter the bilirubin out of his system. This meant daily bloodwork for his first month of life, an extended hospital stay after birth and being readmitted to the hospital for light-therapy to help with the levels (they were way too high for his "days old") so it didn't poison his body potentially causing athetoid cerebral palsy, hearing loss, brain damage, etc.

There are also some tell-tale signs of the MTHFR gene mutation in newborns: stork bite, sugar bug (a blue vein high up on the bridge of the nose, persistent rash or eczema, oral ties, sacral dimples (little bumps at the base of the spine, usually just above or in-between the crack of the bottom). We checked all the boxes here, too.

As you can see, all of these are popular health implications of the MTHFR gene mutation and the inability to methylate folic acid.

To note: I also had and have many of the health implications associated with the MTHFR gene mutation: grade 4 tongue tie, mental illness, autoimmune disease, histamine, etc.

See the section below regarding pregnancy and folic acid to learn why this happened.

Folic Acid In Pregnancy

I'm going to again preface this... I am not a health professional or practitioner. The information I am sharing is based on independent research through peer reviewed articles, Naturopathic Medical Doctors, etc.

Also, I will preface this section in particular.. I apologize for any feelings this section might bring up.

Trigger warnings: birth defects & miscarriage.

We've ALL heard the importance of taking folic acid during pregnancy. The CDC states, "If a woman has enough folic acid in her body at least one month before and during pregnancy, it can help prevent major birth defects of the developing brain and spine.", and, "All people who are capable of becoming pregnant should get 400 micrograms (mcg) of folic acid every day."

My doctor actually recommended I take an additional folic acid supplement in addition to my prenatal vitamin, that already contained folic acid.

To review, MTHFR cannot break folic acid down into folate, and folate is crucial for the health and growth and development of the fetus, particularly in DNA replication. Demands for folate increase significantly in pregnancy, but the presence of the MTHFR mutation makes your body unable to methylate folic acid into folate. When it cannot be methylated, it causes a build up in your body. This leads to deficiencies in folate and high levels of homocysteine.

Deficiencies of folate and high levels of homocysteine can lead to health issues in both fertility and pregnancy, included neural tube defects and pregnancy loss.

Methylation is involved in the growth and development of important tissues required for a healthy pregnant, including the endometrium. It is also involved in proper ovulation . A healthy endometrium is essential for implantation of the fertilized egg. Impairment of the methylation process may also affect the early stages of pregnancy.

Previously, research suggested that at least half of miscarriages may be due to genetic abnormalities in the embryo, particularly chromosomal abnormalities. However, scientists have now detected that male and female fertility factors may include hormones, diet, and parental genetics. In particular, the MTHFR gene has emerged as a possible influence on male fertility and an increased risk of miscarriage.

I lost our first child to miscarriage.

As stated above, it also poses significant risks to the fetus's development and future health risks. Many of which both our son and I have experienced.

What You Can Do

You've taken the first step - educating yourself.

Focus on whole foods. Research signs of heavy-metal toxicity, etc. Question everything and use critical thinking. If something doesn't seem right, it probably isn't.

Avoiding folic acid is important for everyone, not just those with the MTHFR gene mutation. Your body is designed to metabolize the natural forms of these vitamins and minerals.

Other ways you can support your methylation pathways with the MTHFR gene include:

• Eliminate any supplements that contain folic acid

• Supplement with activated versions of folate, B6, and B12 such as methyl-folate, Pyridoxyl-5-Phosphate, and methylcobalamin

• To help with metabolizing homocysteine, increase your intake of betaine - found in beets, spinach, and whole grains such as quinoa

• Increase your dietary intake of vitamins B2, B6, and B12 - often found in meats

• Get activated folate in your diet - found in legumes, dark leafy greens, eggs, liver, whole grains, asparagus, sunflower seeds, etc.

Foods to avoid are those with folic acid and "enriched" ingredients listed on the package. When a food item is "enriched" it means that it has been "fortified" and had vitamins and minerals taken out and re-added in the synthetic form. It lacks fibre and important vitamins and minerals that are in their natural state. Just like folic acid and folate, synthetic and natural forms of vitamins and minerals are NOT equal.

Conclusion

In conclusion, I did not intend to scare anyone, but instead to educate. There are SO many things that are not talked about that explain why so many individuals suffer, have health concerns, etc., with no answers. I'm sick and tired of feeling sick and tired (and I LOVE research), and I won't take "unexplainable" as an answer!

I love talking about this stuff - so please reach out anytime to chat!