My MTHFR Gene Mutation

MTHFR Word Cloud

Have you heard the word, MTHFR? This word has been popping up everywhere for the last a couple of years. MTHFR stands for Methylenetetrahydrofolate reductase. The MTHFR gene triggers the production of the enzyme (MTHFR) that allows folate (vitamin B9) to support the cellular process of methylation. MTHFR enzyme is used to turn folate (vitamin B9) into the biologically active form called L-methylfolate (or 5-MTHF) to complete the methylation process.

Methylation is a very important chemical reaction that occurs in every cell and tissue in your body.  Chemically speaking, methylation is the addition of a single carbon and three hydrogen atoms (called a methyl group) to another molecule. Methylation process is highly dependent on an adequate supply of several key nutrients, which include folate vitamin B2, vitamin B6, vitamin B12, serine and choline. And without those nutrients, methylation imbalances can occur. According to Dr. Heyman, methylation helps repair your DNA on a daily basis. It controls homocysteine, which is an unhealthy compound that can damage blood vessels, linked to cancer, dementia and heart disease and much more. It helps recycle molecules that you need for detoxification and getting rid of toxins. It helps maintain your mood and also helps keep inflammation in check. It’s really critical.

So what MTHFR mutation does to your body?

Mutated MTHFR genes don’t send all of the instructions to make that important enzyme. Which means that there is a shortage of active folate, which leads to lower the methylation process. Since methylation happens more than 1 billion times a second in our body to keep us alive and healthy, if methylation is not working well, a lot can go wrong with our health.

There has been quite a bit of scientific research that has demonstrated that MTHFR mutations play a role in the following multifactorial diseases;

Neurodegenerative disorders
Autoimmune diseases
Neuropsychiatric disorders
Renal diseases
Birth defects

What are the types of MTHFR gene mutations?

Everyone has two MTHFR genes, one inherited from your mother and one from your father. Mutations can occur in one or both MTHFR genes. Researchers suspect there are at least 30 different types. C677T and A1298C are the most well-studied and tested MTHFR mutations.

MTHFR mutations are typically referred to as heterozygous or homozygous. Heterozygous MTFHR means you have one copy of the mutant allele on the MTHFR gene. Homozygous MTHFR mean you have two copies of the same mutant allele, which is considered more severe. There is also compound heterozygous, which is when you have one mutant allele on both the 677 and 1298 base position. To understand better, here is a list of common MTHFR mutation variations;

MTHFR C677C = normal MTHFR gene
MTHFR C677T = heterozygous mutation (one mutation)
MTHFR T677T = homozygous mutation (two mutations)
MTHFR A1298A = normal MTHFR gene
MTHFR A1298C = heterozygous mutation (one mutation)
MTHFR C1298C = homozygous mutation (two mutations)
MTHFR C677T + MTHFR A1298C = a compound heterozygous mutation

How Common are MTHFR Mutations?

It is actually very common. According to Katherine Erlich, M.D, a board-certified paediatrician says that 75% of her patients have at least one single MTHFR mutation and 40% of her patients have a double mutation after testing almost every one of her pediatric patients for two years. However, most people don’t know if they have it or not because this is not tested at a regular checkup. If you have it, it is more likely that other family members have it as well.

What do I have?

I found out that I have MTHFR C677T + MTHFR A1298C = a compound heterozygous mutation. According to multiple websites, having MTHFR A1298C only is less serious, but having both MTHFR C677T and MTHFR A1298C is something I need to pay more attention to.  My homocysteine level was normal, despite the fact that those with a homozygous or compound heterozygous MTHFR mutations are more likely to have elevated homocysteine and greater risk of heart disease. Other markers on heart disease are normal too.

However, I did have positive Antinuclear Antibodies (ANA) result. ANA doesn’t specify what but tells you that you have an autoimmune disease. One of the possible conditions that MTHFR mutation carrier has is an autoimmune disease.  It definitely connected dots. Autoimmune runs in my family, and I suspect that many of my family members may have MTHFR mutation.

Moreover, I have a high level of Vitamin B12 (once it was 1983 pg/ml, the optimal range is 700-900 pg/ml), and none of my conventional doctors paid any attention to this.  I didn’t realize this myself either since most health professionals only talk about the issue of being low in B 12.  I also have a slightly higher level of folic acid. Because of MTHFR mutation, unmethylated vitamin B and folic acid are building up in the bloodstream and becoming toxic and very little is being converted to the usable forms the body needs.

My Next Step

As I discussed in my previous BRCA gene article, you shouldn’t be defeated by what your gene says. You can change the expression of genes by improving your diet and lifestyle choices.  I generally have a healthy diet and lifestyle but wasn’t aware that the form of vitamin B12 and folate I was taking were not right for my body.   So, I need to look for the better bioavailable form of folate and B12 that work in my body. Each one of us reacts differently to anything we take into our body, so it is hard to recommend one particular type of vitamin B12 and folate supplements. However, I can address the type of folate and B12 that you should avoid.

Folic acid refers to the oxidized synthetic form of folate which is often used in dietary supplements and food fortification, whereas folate refers to a natural compound found in food. Because multiple enzymatic steps are necessary to convert folic acid into its active form, several studies have reported the presence of unmetabolized folic acid in the blood following the consumption of folic acid supplements or fortified foods. (Source) Also, one of the major risks associated with excessive intake of folic acid is the development of cancer.

Cyanocobalamin is a synthetic form of vitamin B12 that is not found in nature and derived from cyanide poison. Although the amount of cyanide in a normal B12 supplement is too small to be harmful, your body will still need to remove and eliminate this compound. Some say that long term supplementation with cyanocobalamin can have systemic toxic effects on the body and even lead to kidney failure! In addition, someone like me who has MTHFR mutations, it is more difficult for the body to breakdown synthetic B12 to make it available for the body to use.

Should you get tested on MTHFR gene?

Why not? Now it is covered by most of the health insurance. Some recommend using 23andMe. If there is something going on your body or your kid, and no doctors are giving you what they are, the test might give you answer.  Dr. Ben Lynch has tremendous information on MTHFR gene. So please check it out.


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