What is the MTHFR Gene

The MTHFR gene provides the code for an enzyme in the body to metabolise folate. It takes folate from food and converts it into its active form called 5-methyltetrahydrofolate (5-MTHF). This methyl form of folate is used in the body in a process called methylation.

What is methylation

Methylation is the transfer of a methyl group (one carbon atom with 3 hydrogens attached and a spare arm onto amino acids, enzymes, proteins and DNA. When a methyl groups attaches to one of these substances it turns their functioning either on or off depending on what the body needs. Examples of what methylation does includes:

  • Detoxifies hormones – issues can lead to hormonal imbalances (heavy periods, painful periods, endometriosis, PCOS).
  • Turns on and off the stress response – very important for mental health.
  • Balances our neurotransmitters – again very important for mental health.
  • Repairs and builds DNA – this is very important in pregnancy. Issues with this can cause miscarriage.
  • Produces important nutrients for energy including CoQ10, creatine and carnitine.
  • Reduces histamine – this is very important as when histamine builds up it causes many issues including anxiety, insomnia, dizziness, migraines, eczema, hives, coughing, wheezing, tight chest and even period pain.
  • Produces glutathione (our bodies major antioxidant) – you can’t reduce inflammation without glutathione.
  • Produces phosphatidylcholine, which surrounds cell membranes, the mitochondria (where energy in the body is made) and the myelin sheath (protective coating around nerves).

This is just a short list of what methylation does but as you can see its very important for overall health.

What are the signs & symptoms of someone with the MTHFR gene and methylation cycle issues:

  • Recurrent miscarriage
  • Hormonal imbalance (heavy periods, PCOS, PMS, fatigue, fibroids)
  • Fatigue
  • Fibromyalgia
  • Insomnia
  • Chronic gut issues (burning, bloating, nausea in particular)
  • Anxiety
  • Depression
  • Multiple food sensitivities
  • Multiple chemical sensitivities
  • Headaches and Migraines
  • Dizziness
  • Skin disorders (eczema, hives, itchiness)
  • Neuropathy

What affects the methylation cycle?

There are many environmental factors that disrupt the methylation cycle, including:

  • Stress – stress depletes the body of methyl groups so that you don’t have enough for other processes such as detoxification and histamine break down.
  • Heavy alcohol consumption – alcohol depletes B vitamins, which are essential to the proper functioning of the methylation pathways.
  • Folic acid – folic acid is a synthetic form of folate that blocks the uptake of natural folate from food.
  • Environmental toxins these place a heavy burden on the methylation pathways in the liver as well as deplete glutathione (the body’s major antioxidant)
  • Bacterial, viral, fungal, parastic infections – infections cause inflammation, which will deplete the body of glutathione.  In turn, homocysteine is lowered, resulting in an inadequate amount of homocysteine that is needed for methylation.
  • Inadequate B12 intake – B12, which is only found in adequate amounts in animal protein, is essential for the proper functioning of the methylation pathways. Vegans and vegetarians are very susceptible.
  • Low B6 and Zinc ­– deficiency in B6 and zinc is seen in people with pyrroluria and / or an overload of oxalate in the body. Oxalate is very high in nuts and seeds, so those on a paleo diet may be eating too many oxalates.
  • Poor gut health – this will lead to malabsorption of the essential nutrients required for methylation.


Treatment for the MTHR gene mutation and methylation cycle issues is very individualised. Determining what in the environment is impacting each individual is key to treatment.  A specific diet and supplement regime is designed for each patient.


Please contact Jo on 0400 658 003 or email at to organise a time.