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What is Methylation and MTHFR?

The methylation cycle is important because it takes the nutrients from our food and nutrient supplements to make the energy and create balance in the body. It is essential to create healthy cells, neurotransmitters to balance our mood as well as removing toxins and fighting infections. When the methylation process is working you should feel pretty well, but when methylation breaks down you may feel fatigued, depressed, irritable, sick, with some level of fogginess.

MTHFR stands for methylenetetrahydrofolate reductase an enzyme converts folic acid into the usable form for the body by adding a methyl group to it called methylation. This usable form of folate, 5-MTHF, can then donate its methyl group to other nutrients and substances—a process called “methylation.”

This process occurs within every cell the body and is very important for the body to stay balanced. 5-MTHF, along with several other nutrients, is also used to create and process neurotransmitters (messengers in the nervous system like serotonin, epinephrine, norepinephrine, and dopamine); create immune cells and process hormones; as well as to produce energy and detoxify chemicals.

MTHFR uses two enzymes (methylfolate and methylcobalamin—a form of vitamin B12) to turn a substance called homocysteine, which can be toxic at high levels, into another important substance that is safe for our bodies called methionine. When this process is impaired and homocysteine levels rise it can lead to damage to blood vessels and a higher incidence of stroke, heart attacks, dementia and others.

5–methyltetrahydrofolate (5-MTHF), along with other nutrients are essential for the production of important neurotransmitters such as; serotonin, epinephrine, norepinephrine, and dopamine. They help form immune cells and hormones as well as support metabolism. Deficiency in these important nutrients can increase the risk of anxiety, depression, autoimmune disease, autism, alzeheimer’s, and several more.

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Negative Effects on Methylation

The methylation cycle is not only effected by deficiencies in nutrients but can be negatively impacted by stress, disease, and other negative exposures. When you are emotionally or physically stressed your body burns through more of the essential nutrients and also releases more of the adrenal hormone cortisol, which can slow down the amount of methyl produced.

  • Stress
  • Obesity
  • Alcohol
  • Tobacco
  • Elevated Nitric Oxide - common with chronic fatigue, inflammation, autoimmunity and Lyme disease; nitrous oxide gas treatment at the dentist will also increase nitric oxide
  • Autoimmune Antibodies
  • Food Sensitivities - irritable bowl & leaky gut
  • Environmental Toxins
  • Heavy Metals - (like mercury and aluminum)

In summary, in more detail, the liver is our main detoxifying system that requires numerous substances and processes to operate including methylation. Methylation is the process that converts nutrients into their usable forms and also reduces potential toxins in the body. In general, our body’s methylation process is hindered from stress and other poor lifestyle choices and can be further compromised if you have a genetic mutation of MTHFR, which lowers your ability to methylate.

Associated Conditions with MTHFR Gene Mutation

  • Autism
  • Addictions - (Smoking Drugs & Alcohol)
  • Down’s Syndrome
  • Frequent miscarriages
  • Male & Female Infertility
  • Pulmonary embolism - (and other Blood Clots)
  • Depression & anxiety
  • Schizophrenia
  • Bipolar disorder
  • Fibromyalgia
  • Chronic Fatigue Syndrome
  • Chemical Sensitivity
  • Parkinson’s disease
  • Irritable Bowel Syndrome
  • Stroke
  • Spina bifida
  • Migraines
  • Hyperhomocysteinemia
  • Breast cancer
  • Atherosclerosis
  • Alzheimer’s

Getting Lab Tests

The good news is that you only have to do genetic testing one time as this information does not change. So, you only need to get the MTHFR testing done once. It is important to get other lab data one to two times per year to make sure other important hormones and nutrients are replenished and balanced. If you have elevated homocysteine levels you should check these every few months to make sure they are declining with nutrient therapies. Based on MTHFR and homocysteine results, providers can develop dietary and medical recommendations such as increased intake of methylfolate alone or in combination with vitamins B6 and vitamin B12 (methylcobalamin).

Get MTHFR and other lab tests →

What do I do if I have a mutation?

The treatment for any of the gene mutations is simple in many cases, but can become trickier if you have associated disease and taking medications. Regardless, the first thing you need do is take folate in the form 5–methyltetrahydrofolate (5-MTHF), the usable form for the body. There are other nutrients that are affected by these mutations that are good to add to your supplement list such as, methylcobalamine (B12), SAM-e (S-adenylosyl methionine), choline, and zinc. Some people with genetic defects have better results when using vitamin injections, particularly methylcobalamin. Injections can deliver higher quantities of the vitamins for people with more severe conditions.

Schedule a fast, easy and affordable consult with a medical provider with expertise in MTHFR now →

As a society we are at poor health status with high exposures to stress and toxins, so without even knowing your genetic status it is worth investing in some of these particular forms of needed supplements. If you are already taking a B complex and multivitamin make sure it says “folate” or “methylfolate” instead of “folic acid.”


Stands for Methylenetetrahydrofolate reductase. It converts folic acid to methylfolate (5MTHF)

Methionine Synthase uses methylfolate (folate) and methylcobalamin (B12) to turn homocysteine into methionine

Methionine Synthase Reductase creates SAM and electrons that make energy in the mitochondria

The backup system (so to speak) in the liver and kidneys that can also make methionine from choline and TMG

Removes homocysteine from the MTR/MTRR cycle and converts it into cysteine and glutathione

Genotype Data

677 – CC – CT – TT

  • CC – homozygous normal
    • – Approximately 45% of the population
      – No increased risk associated
  • CT – one variant copy
    • – Approximately 45% of the population
      – Some reduced enzyme activity
  • TT – two variant copies
    • – Approximately 45% of the population
      – No increased risk associated
      – Approximately 45% of the population
      – Some reduced enzyme activity
      – Approximately 10% of the population
      – Increased risk for elevated homocysteine levels and associated complications

1298 – AA, AC, CC

  • AA – normal homozygous
  • AC or CC – one or two variant copies
    • – Approximately 30% of the population
      – Not associated with increased risk
      – Associated with increased risk if found together with a 677 variant.