MTHFR gene mutation: What does it mean?

The MTHFR enzyme is needed in the body for the activation of folate, also known as vitamin B9, which is a critical nutrient used with cofactors such as vitamin B12, B6 and B2 for a biochemical pathway, the methylation cycle. The Methylation cycle manages or contributes in many crucial body functions such as detoxification, mood regulation, energy production, synthesis and repair of DNA, immune function and controlling inflammation.

Research suggests that approximately 45% of the population has at least one MTHFR gene mutation. A mutation in the MTHFR gene can impair methylation function, which is linked with many health conditions including:

  • ADD/ADHD, autism and other spectrum disorders
  • Mood and psychiatric disorders such as anxiety, depression, addictive behaviour, alcoholism, bipolar, schizophrenia
  • Cancer
  • Infertility, recurrent miscarriage, PCOS (polycystic ovarian syndrome)
  • Congenital heart defects (CHD), cleft palate, spina bifida, neural tube defects, Down’s syndrome
  • Cardiovascular disease, blood clotting (DVT), pulmonary embolism, high homocysteine
  • Allergies, chemical sensitivities, drug interactions
  • Alzheimer’s disease, Parkinson’s disease, Epilepsy
  • Chronic fatigue syndrome, fibromyalgia, immune deficiency
  • Diabetes, neuropathy, multiple sclerosis (MS), thyroid dysfunction, migraines, insomnia, vitiligo

If there is a mutation on the MTHFR gene there is a decreased ability for folate to be converted into its active form 5-methyltetrahydrofolate (5-MTHF). 5-MTHF is needed to activate vitamin B12, which begins the methylation cycle important for preventing the conditions discussed above. There are varying degrees of impaired folate activation depending on whether a person has one or two mutations on the MTHFR gene and if the mutation was inherited from one or both parents.

Amongst other processes, methylation is used during detoxification, in the production of stress hormones, adrenalin and noradrenalin and for DNA replication and cell division. As a result of this, exposure to toxins, stress and pregnancy are times when methylation is especially depleted and nutrients such as folate and vitamin B12 are in high demand. Given the impaired ability for people with the MTHFR gene mutation to effectively activate folate it is crucial to ensure that the body is appropriately supported in this function. This may require supplementation, especially during times of high demand.

Folic acid or Folinic acid?

There are over 150 different forms of folate found naturally in our food plus the synthetic form, folic acid. Folinic acid and folic acid are the most common forms of folate found in supplements. Folinic acid is one step away from the activated form of folate, 5-MTHF and is converted quickly and easily. Folic acid on the other hand, undergoes a slow process with many reactions before it reaches the 5-MTHF form. This process is even slower in those who have a MTHFR gene mutation. This slow process can cause a build up of un-methylated folic acid, which can impair the body’s immune system and prevent the natural forms of folate from foods being absorbed and utilized in the body.

Most folate supplements contain folic acid and it is now mandatory in Australia for all products that are made with non-organic wheat flour, such as breads, pastries and cereals, to be fortified with folic acid. When a MTHFR gene mutation is present it’s best to avoid these foods and supplements containing folic acid to ensure a healthy methylation cycle.

Foods which are naturally rich in folate and should be included in a methylation cycle supportive diet include; dark green leafy vegetables such as spinach, kale, and collard greens, broccoli, egg yolks, beans, almonds, sweet potato, bananas and legumes.

For optimal methylation function it is also important to decrease chemical and toxin exposure as much as possible by eating organic, non-processed foods and avoiding alcohol, smoking, household chemicals, environmental toxins and minimizing stress levels. To determine whether you might have a MTHFR gene mutation and if supplementation is required it’s best to seek advise from a professional.

Kate Bird

Kate Bird, BHSci Naturopathy

Available for consultation Wednesday and Fridays.
Skype consults are available by appointment.