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 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 include:


  • Detoxifies hormones – issues can lead to hormonal imbalances (heavy periods, painful periods, irregualr periods, endometriosis, fibroids, fibrocysic breasts, PCOS).
  • Turns on and off the stress response – very important for mental health.
  • Balances neurotransmitters – 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, depression, insomnia, dizziness, migraines, eczema, hives, coughing, wheezing, tight chest and even period pain.
  • Produces glutathione (major antioxidant) – you can’t reduce inflammation without glutathione.
  • Produces phosphatidylcholine – a type of fat which surrounds cell membranes, the mitochondria (where energy in the body is made) and the myelin sheath (protective coating around nerves).



signs & symptoms Of methylation issues

  • Recurrent miscarriage
  • Hormonal imbalance (heavy periods, painful perids, irregular periods, endometriosis, PCOS, PMS, premsnstrual 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
  • Cardiovascular disease

What affects the methylation cycle?

The methylation pathways are impacted by many environmental factors including: 


  • Stress – stress deplets the body of methyl groups so that you don’t have enough for other processes in the body 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 and depelete glutathione stores.
  • Bacterial, viral, fungal, parastic infections – these 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 to low B12.
  • Low B6 and Zinc ­– deficiency in B6 and zinc is seen in people with pyrroluria and / or an overload of oxalate in the body. The methylation pathways rely on B6 and zinc for proper functioning.
  • Poor gut health – this will lead to malabsorption of the essential nutreints 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 individual patient.




Sydney Naturopath, Joanne Kennedy is available to assist with MTFHR gene mutation and methylation cycle issues. For appointments please email Joanne at or call 0400 658 003.