MTHFR Gene Mutation – How It Affects Your Health

Have you been googling for ways to improve your health and come across suggestions to test MTHFR? What is MTHFR and what does it have to do with any of your conditions? 

If you are one of the 60 percent of people with a genetic defect in the MTHFR gene, it could affect your ability to successfully manage conditions such as Hashimoto’s hypothyroidism, cardiovascular states/high blood pressure, joint inflammation/pain, or brain-based symptoms.

MTHFR is the acronym for MethyleneTetraHydroFolate Reductase, an enzyme involved in processing folate, or vitamin B9, into a usable form the body can assimilate. It’s also necessary to metabolize folic acid, a synthetic form of folate used in supplements.

Thanks to the popularity of gene testing, people can now learn whether they have a mutation in the MTHFR gene. If so, it means their methylation pathways are impacted and contributing to health challenges.

Common MTHFR Gene Defects

More than 50 MTHFR genetic mutations exist, but the two considered the most problematic are C677T and A1298C. The MTHFR gene sits on Chromosome 1. The gene is classified as either heterozygous or homozygous.

Heterozygous = 1 copy of the gene from either parent

Homozygous  = 1 copy of the gene from each parent

MTHFR C677T Heterozygous = 40% loss of function 
MTHFR C677T Homozygous =  70% loss of function 

MTHFR A1298C Heterozygous = 20% loss of function 
MTHFR A1298C Homozygous  = 40% loss of function 

MTHFR C677T & MTHFR A1298C heterozygous = compound heterozygous = 50% loss of function

Keep in mind gene defects don’t always become activated. If you show those genes on a test it doesn’t necessarily mean they have been expressed and are causing symptoms.

“Loss of function” means that there is reduced capacity of the MTHFR gene to work at full capacity. The exact loss also varies between individuals.

What Is Methylation?

Methylation pathways govern detoxification and many important metabolic processes in the body, which makes an MTHFR defect something worth paying attention to. If you are struggling to manage your health in any way, you may find the MTHFR test valuable.

Methylation is extremely complicated, to say the least. By simply taking a look at some of the schematic processes below,  I hope you can appreciate why I must reinforce that you work with a practitioner who has a deep knowledge of the mechanisms involved. Do not simply “treat yourself” since you can seriously harm yourself instead.

You will notice where the MTHFR gene sits in the overall picture of methylation in the FOLATE cycle.

Methylation is the process of adding a methyl group (a CH3 group) to a molecule. The role of methylation (or methyl transfer) includes:

  • Turning genes on and off
  • Detoxifying chemicals and toxins from the body
  • Building brain neurotransmitters (serotonin, dopamine, noradrenaline)
  • Metabolizing hormones to maintain hormonal balance
  • Building immune cells
  • Synthesizing DNA, RNA, and SAMe (all for optimal cell health)
  • Creating cellular energy
  • Producing a protective coating that sheathes the nerves
  • Metabolizing histamine
  • Supporting eye health
  • Burning fat
  • Supporting liver health
  • Formation and maturation of RBC (red blood cells), WBC (white blood cells), and platelet production.
  • Essential for detoxification of homocysteine
  • Act as on/off switches for many cells activities
  • Turn enzymes on and off
  • Turn neurotransmitters on and off
  • Turn on tissue repair
  • Turn off inflammation
  • Turn on and off the stress response
  • Reduce the aging process because they protect telomeres
  • Detoxify chemicals and importantly help supply glutathione which is the body’s most important anti-oxidant helping to break down xeno-oestrogens and assisting with your phase-2 liver detoxification
  • Give us our energy  because we need methyl groups to help our energy cycle create carnitine, CoQ10, and ATP and support mitochondrial energy

If you are short of methyl groups your body cannot respond to whatever nutrients, vitamins, minerals, or herbs you put in your body. So chronic disease is not far away.

Proper methylation means one can efficiently make proteins, use antioxidants, metabolize hormones, enjoy more balanced brain chemistry, detoxify toxins and heavy metals, and dampen inflammation. All of these factors are vital to managing a healthy body state.

For all the above functions to happen the body needs to convert folate to the active 5-MTHF (5-methyltetrahydrofolate) with the help of co-factors.

The Importance of Folate – Not Folic Acid!

Folate is vitamin B9 and is not the same as folic acid. Folic acid is synthetic and is not found in nature. It must undergo various transformations to become active and be utilized by the body. However, if you’re one of the 60 percent of people with an MTHFR genetic defect, you may not be able to properly break down folate in foods or folic acid in supplements.

High doses of folic acid can lead to UMFA (un-metabolized folic acid) syndrome in everyone, but especially those positive with the MTHFR gene defect. UMFA is suspected of causing immune dysfunction and other adverse pathological effects such as cancer (especially colorectal and prostate).

So please discard out ALL folic acid-enriched foods. These are processed foods such as cereals, bread, pasta, energy bars, drinks, snacks. Also, discard ALL folic acid containing supplements.

Food sources of folate may not give you the folate intake that you need, due to most standard diets being low in leafy greens, vegetables, and legumes.

The best forms of folate supplements are L-methyl folate (glucosamine or calcium salt versions), and folinic acid.


  1. L, 6(S), or L-5 forms: L-methyl folate, L-5-MTHF, L-5-methyltetrahydrofolate, (6S)5-MTHF glucosamine salt (often under the trademark Quatrefolic)
  2. L-methyl folate calcium, Metafolin, or Levomefolic acid
  3. Folinic acid or calcium folinate


  1. Folic acid
  2. D-forms and 6(R)-forms of methyl folate

Factors Affecting Methylation

There is a huge array of cellular damage from our toxic environment which damages cellular function. Mobile phones, planes, radiation, water pollutants, industrial wastes, pesticides, cosmetics, and heavy metals (such as mercury and lead). These build up to a point where our body’s self-regulatory processes break down and chronic disease results.

Genetically modified foods can damage DNA.

Environmental pollutants like Bisphenol A (BPA) in plastics are also an issue.

Stress uses up many methyl groups. If there are not enough and we have a mutation that stops us from creating them we are in trouble. If a methyl shortage occurs, it will affect other systems like the brain, thyroid function, joints, energy, and so on. Sometimes the stress response gets turned on with methylation and there are not enough methyls to turn it off again.

Methyl groups decline with age. So cognitive decline can be greater if we have a decrease of methyl groups.

Poor Methylation Issues

An inability to properly process folate can raise levels of homocysteine. Homocysteine is an amino acid in the bloodstream that can be dangerous when levels are too high. High homocysteine is linked to an elevated risk of heart disease and Alzheimer’s disease.

Poor methylation also impacts another vital process – the production of glutathione, the body’s main antioxidant. When we become deficient in glutathione, we lose our natural defenses and are at higher risk of developing autoimmune diseases, food sensitivities, and chemical sensitivities.

An MTHFR defect can also impair the body’s ability to synthesize important brain neurotransmitters, so that brain-based disorders may arise. An MTHFR defect has been linked to depression, anxiety, brain fog, ADHD, bipolar disorder, and even schizophrenia.

Because methylation is involved in so many important processes in the body, an MTHFR gene defect has been associated with many health conditions, including:

  • Heart attack
  • Stroke
  • Venous thrombosis
  • Cancer
  • Birth defects
  • Inflammatory bowel disease
  • Mental and mood disorders
  • Autoimmune disorders such as Hashimoto’s hypothyroidism

To address an MTHFR enzyme defect, it is vital to support the methylation pathways with appropriate cofactor supplementations, such as methyl folate, zinc, magnesium, vitamins B1, B2, B3, B5, B6, methyl B12, and so many more. Avoid supplements with synthetic folic acid and minimize your exposure to stress and toxins.

This sounds quite simple – oh, I wish!! 

Supporting and balancing methylation is truly a skill. Please do no try to do this on your own. Rather, seek the advice of a qualified natural health practitioner specializing in methylation.

You can test for MTHFR gene mutations through me with genetic testing companies such as Nutripath Pathology or via your local general practitioner.

CLICK HERE to book a consult online.

**If you’ve got this far – thank you for reading and I look forward to bringing you more information in the future.

Now, for those interested in learning more about MTHFR and methylation, have a listen to Dr. Eric Berg…