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What Is MTHFR? All You Need to Know About Methylation and MTHFR

computer image of dna

What Is Methylation?

Ever hear of it? Heard of it but have no idea what it is? Well, it is a critical biochemical pathway that occurs in our bodies…in fact, it occurs billions of times every second within our cells. Without methylation, we would die. Methylation plays a crucial role in many bodily functions, including detoxification, immune function, energy production, mood balancing, maintaining DNA, and managing inflammation. In this article, we're answering the question: What is MTHFR, and sharing all you need to know about methylation, and MTHFR.

What Is MTHFR?

MTHFR is a gene that creates an enzyme called methylenetetrahydrofolate reductase (MTHFR). This gene/enzyme function is responsible for creating a vital multi-step chemical breakdown/cycling process called methylation. In every single cell in the body as well as in the fluid supplying the brain, this highly intricate process of methylation is occurring. Methylation makes us who we are! It is responsible for our physical, emotional, and mental health. Without it, we could not survive.

Remember the toy the Spirograph? I think of methylation like this toy. There is one wheel that you put your pen in and you start moving the wheel that is attached to several other wheels. As you move the wheel with your pen, all the other wheels start to spin. If the pen isn't moving, nothing else is moving. If the process of methylation isn’t occurring, then the other processes that are dependent on the production of methyl groups aren't occurring properly.

a Spirograph pattern on paper

Methylation Process

Here's another word picture to help explain this process:

This process of methylation is like a factory line where 'methyl groups' are being created. These methyl groups consist of a carbon with three hydrogen (CH3) atoms. As these groups are created 'in the factory' of methylation, it is passed onto another 'worker' so that that worker can do its work. Although we are completely unaware of this methylation process going on in the body, it is critical for making, maintaining, and repairing DNA (your genetic code). This system also shuts down viruses, supports immunity, assists detoxification, and turns off and on certain genes so that the system runs successfully. This is known as gene expression. Think of it this way…methylation is like a factory line where tires for cars are being made. The car (without the tires) is waiting on the lot to receive its tires so it can drive off the lot to go do its job. If tires (methyl groups) aren't being made in the factory, the car can't do what it was created to do.

computer image of nervous system function

Specific Jobs of Methylation

More specific jobs of methylation include:

  • Processing and filtering heavy metals and environmental toxins out of the body
  • Homocysteine management in order to prevent the harmful effects of high homocysteine (inflammation in the blood vessels, brain, heart tissue, and increased risk of developing Alzheimer's)
  • Converting nutrients like folic acid to methyltetrahydrofolate so that it can do innumerable actions throughout the body
  • Nervous system function and insulation around nerves
  • Creating the building blocks, RNA and DNA
  • Efficient removal of fat and cholesterol or used properly to create hormones
  • Regulate gene expression
  • Immune functionRemoval of free radicals
  • Manages the amount of fluid inside and outside of each cell
  • Neurotransmitter and chemical messenger communication and processing
  • Manages sulfur metabolism which is crucial for the detoxification process
  • The production and repair of proteins in the body
  • Histamine regulation and allergic responses
  • Waste and toxin cleanup through BH4 production


Here's a bit of biochemistry for your enjoyment. 

There are four major molecules involved in the methylation cycle: 

  • Homocysteine
  • Methionine
  • S-adenosylmethionine (SAMe)
  • S-adenosylhomocysteine. 

Each one of these molecules is like a step in the factory line and you get from one molecule to the next by means of enzymes. Each enzyme has an important co-enzyme or cofactor that it relies on to function properly and continue on to the next step. These cofactors are critical to the enzymes functioning properly and they include B vitamins such as folic acid, vitamin B12, and vitamin B6.

There is a biochemical glitch that happens in this cycle. In order for this 'factory line' of methylation to work these B vitamins have to be in their active form. Vitamin B12 needs to be in the form methylcobalamin, folic acid needs to be form folinic acid, and pyridoxyl-5-phosphate.

The process of methylation produces the most active form of folate in your body known as methylfolate. Methionine is extremely important and is used by the body to help detoxify against harmful agents such as lead and other heavy metals, it supplies sulfur and other compounds required by the body for normal metabolism and growth, it reduces the levels of histamine, and it has been found to act like an antioxidant to remove free radicals from the body, and it promotes excretion of estrogen.

a woman pinching the bridge of her nose

MTHFR Gene Mutation Explained

What happens when your MTHFR gene is defective/mutated? This is called an SNP ('snip') which stands for single nucleotide polymorphism.

  • Neurologic abnormalities - such as weakness, numbness, fatigue, seizures, memory loss, and likely increased risk of Autism Spectrum Disorders
  • Immune dysfunction
  • Poor protein repair and production
  • Neuropsychiatric imbalances leading to depression, anxiety, panic attacks, irritability, mood swings, OCD, ADD/ADHD, Parkinson's, schizophrenia, bipolar disorder, and poor concentration
  • Lack of hormone regulation
  • Poor cell turnover, repair, and maintenance
  • Increased risk of cancer through a couple of different mechanisms
  • Inappropriate genetic coding leading to additional genetic mutations
  • Cholesterol accumulation leading to fat deposits around organs and within blood vessels
  • Significantly decreased glutathione production. Glutathione is the body's most potent detoxifier and without it toxins accumulate
  • Increased risk for stroke, heart disease, clotting disorders, infertility, spina bifida, and many chronic diseases
  • Heavy metal toxicity and toxic substance accumulation in the body
  • Electrolyte imbalances and cellular irregularities leading to Alzheimer's, Autism, Multiple Sclerosis, and Crohn's Disease
  • Abnormal DNA and RNA function
  • Increased risk of autoimmune disease
  • Hormone abnormalities leading to diabetes as well as pituitary, thyroid, and adrenal dysfunction
  • Widespread cellular damage leading to headaches, fatigue, intestinal permeability (leaky gut), and many other inflammatory conditions
medication spilling out of pill bottles

Medications/Supplements That Make MTHFR Genetic Mutation Worse

  • Acid blockers/Antacids (Zantac, Prilosec, etc)
  • Niacin
  • Estrogen from birth control pills or menopause medications
  • Sulfa- containing antibiotics or medications
  • Methotrexate
  • Metformin
  • Nitrous oxide ('laughing gas' at the dentist)
  • Cholesterol binding drugs such as Cholestyramine

How Do You Know if You Have an Issue Methylating?

Genetic testing is what needs to be done. A blood or saliva test can be done to assess your MTHFR gene for a mutation. Two different genes (C677T and A1298C) are measured when this test is ordered. Each gene has two copies. If both copies of a gene are involved in the mutation it is called a homozygous mutation; one copy is considered a heterozygous mutation. A homocysteine level can be measured in the blood and when elevated can suggest an SNP in the MTHFR gene; however, the gold standard would be to test for the SNP directly.

Remember this is a genetic mutation; it is passed on between family members. That being said, we have the ability to 'bypass' these genetic mutations and support the methylation 'factory line' with diet and supplements. We are not just our genes. Food and nutrients have the ability to impact how our genes are expressed.

Check out our article on Mast Cell Activation Syndrome (MCAS) for more information on poor methylation.

At The Center for Fully Functional® Health, we perform comprehensive laboratory evaluations to understand the root causes of our patient's concerns. Our personalized patient care plans almost always involve genetic testing for MTHFR.

You can book an appointment by clicking here. We are also happy to speak with you at (317) 989-8463, Monday-Thursday, from 8AM - 5PM Eastern time.

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