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Debunking the MTHFR “Symptoms” Myth

Perhaps you’ve learned you carry an MTHFR gene “mutation” and are worried because you’ve heard about all the associated symptoms health conditions.

Well, you can rest easy because there is no such thing as MTHFR symptoms. The numerous articles published online that claim otherwise are doing the public a disservice by preying on people’s health concerns, often to sell supplements.

Now, this isn’t to say that MTHFR polymorphisms don’t play a role in health, because they can. However, MTHFR is only one gene in 30,000 in the human genome, and the role it plays is overstated in many functional health circles. There is a large contrast between “single gene” conditions, like cystic…

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 MTHFR and your Pregnancy

People with an MTHFR variation have issues converting folic acid into the form necessary — L-methylfolate — for it to be active in the methylation cycle. This results in a slowing down of methylation, which affects neurotransmitters and the body’s ability to detoxify. The methyl cycle is the backbone of our physiology.

 What is the normal function of the MTHFR gene?

The gene MTHFR (Methylenetetrahydofolate Reductase) encodes the protein MTHFR. Its job is to convert one form of folate (5,10-Methylenetetrahydofolate) to another form of folate (5-Methyltetrahydrofolate). 5-Methyltetrahydrofolate is used to convert homocysteine to methionine. Therefore, if MTHFR is not doing its job as well, homocysteine will not be converted to methionine and will be elevated in your blood. What this means is that the genes that instruct MTHFR to convert homocysteine to methionine are mutated and may not be capable of doing this important function. Your homocysteine levels can possibly climb making the blood clot. Some doctors don’t check for the MTHFR mutations and rely only on homocysteine levels. This isn’t as reliable as testing for the mutations, because homocysteine levels fluctuate.

 Why You Don't Actually Need to Test for MTHFR Gene Variants

Opinion: Most variants aren’t proven to be harmful.

Articles of Interest

Do You Have The Gene Mutation That Affects 40% Of The World?

Genes are the specific instructions that make you who you are. They are sections of DNA, your body’s master manual, and at the latest estimate, there are around 20,000 genes in the human genome. But genes, like humans, are imperfect, and often have mutations or variations that can cause everything from eye color to hair curl to whether you can curl your tongue.

Folic acid in pregnancy – MTHFR gene explains why the benefits may differ

One of these genes – the MTHFR gene – provides the instructions for making the protein methylenetetrahydrofolate reductase. This protein is a key player in the complex process of converting folic acid (or folate) that we receive with foods into methylfolate, the form that our body can use. The MTHFR gene is responsible for how much methylfolate is produced in the body. Our body needs methylfolate for a proper metabolism. If there is not enough methylfolate in the body, it leads to many serious health problems.

Homocysteine and MTHFR Mutation Resources

MTHFR is the official symbol for the gene “methylenetetrahydrofolate reductase (NAD(P)H).” There are many different mutations in the MTHFR gene. Some individuals with a MTHFR mutation have elevated homocysteine levels. Elevated homocysteine levels may cause irritation of the blood vessels and are considered a risk factor for blood clots.

Methylenetetrahydrofolate (MTHFR), the One-Carbon Cycle, and Cardiovascular Risks

The 5-10-methylenetetrahydrofolate reductase (MTHFR) enzyme is vital for cellular homeostasis due to its key functions in the one-carbon cycle, which include methionine and folate metabolism and protein, DNA, and RNA synthesis. The enzyme is responsible for maintaining methionine and homocysteine (Hcy) balance to prevent cellular dysfunction.

MTHFR Gene, Folic Acid, and Preventing Neural Tube Defects

The MTHFR gene provides instructions for your body to make the MTHFR protein, which helps your body process folate. Your body needs folate to make DNA and modify protein.

Our Take On The MTHFR Gene

Despite lots of research – and lots of buzz – the existing scientific data doesn’t support the vast majority of claims that common MTHFR variants impact human health. That being said, there are many other genetic variants that can actually impact health... Some very rare variants in MTHFR can cause a severe condition called homocystinuria, which affects fewer than 1 in 200,000 people in most ethnicities.[16] These variants are different from the common variants.

The MTHFR Mutation: What It Is and What To Do About It

Each of us has a unique genetic makeup, which makes you, well, you. Included in those differences may be certain defects, variations, or mutations. Not to worry, though — everyone has them! Among mutations, methylenetetrahydrofolate reductase, or the MTHFR gene mutation is common.

What is MTHFR

Humans have about 20,000 genes, among those is the MTHFR gene. According to the Genetics Home Reference the MTHFR gene provides instructions for making an enzyme called Methylenetetrahydrofolate Reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate Reductase is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9)9. When eating food that contains folic acid, MTHFR converts it into methyl-folate, folates active form. Loss of this important step is crucial as methyl-folate plays a role in just about everything in the body. Methyl-folate plays a key role in methylation, the process of adding a methyl group to a compound. Methylation is involved in controlling homocysteine, a sulfur-containing amino acid that can affect plasma levels.

Resources

Living with MTHFR

My Name is Elissa Napier and I started Living With MTHFR to share genetic information with the world. I have had an interest in genetics for many years, first researching in my spare time. I had been bed-ridden for 3 years and I had went to many doctors who diagnosed me with so many different problems, but I never got better.

MTHFR Support Clinic

We are the only dedicated MTHFR clinic in the world that helps you understand how your genes affect your health

Hartley Chiropractic and Scoliosis Center

Having an MTHFR mutation doesn’t automatically mean you will experience the symptoms or health issues...

MedlinePlus

The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a form of folate called 5,10-methylenetetrahydrofolate to a different form of folate called 5-methyltetrahydrofolate. This is the primary form of folate found in blood, and is necessary for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.

Methyl-Life

MTHFR stands for Methylenetetrahydrofolate Reductase. It is a key regulatory enzyme in the metabolism of folate. It also refers to a specific gene that plays a major role in the body’s methylation process. Both the enzyme and the gene have the same name, MTHFR.

MTHFR Support

If you have heard of MTHFR mutations before but didn’t know where to start. This article is for you! It will give you a foundational understanding of biology while introducing you to the types of MTHFR mutations and their overall effect.