Nov 19, 2017

Joanne Kennedy is an Integrative Naturopath who specialises in MTHFR gene mutation and methylation cycle issues. A fascinating and deeply scientific chat.

“Naturopathy and Homeopathy cures a larger percentage of cases than any other form of treatment and is beyond doubt safer and more economical.” ― Mahatma Gandhi

Valuable Links and References


What is Methylation?

Methylation, the process of activating a molecule through the addition of a methyl group, is required to ensure the proper functioning of metabolic pathways and efficient enzyme activity. Methylation is important in numerous biochemical reactions in the body that control vital processes, such as the regulation of gene expression. Methylation is, essentially, the on/off switches of the body – where countless molecules and processes can be activated, or deactivated, to perform a function, or to allow a reaction to occur. A mutation in the MTHFR gene could result in defective or insufficient MTHFR enzyme, which may affect methylation. A lack of methylation can cause metabolic disorders and poorer levels of health. DNA, RNA, proteins and lips require methylation in order to function properly.

Methylation and MTHFR

Insufficient or ineffective MTHFR enzyme can result in a decrease in methylation, leading to a lack of active folate and folate conversion. Similarly, low folate means less conversion into methyl groups that further methylate molecules within the cell, thus causing a build-up of toxic chemicals and heavy metals.

Furthermore, the C667T homozygous mutation of the MTHFR gene results in an increase of homocysteine. High levels of homocysteine that cannot be converted into methionine is dangerous to the body. Chronic disease resulting from a lack of methylation, lack of enzymes, or abundance of metabolic intermediates is common. Chronic fatigue is one such example, where MTHFR mutations may cause lowered ATP production.  Methylation issues can also cause:

  • Frequent headaches and migraines
  • Anxiety
  • Depression
  • Recurrent miscarriage
  • Detoxification issues
  • Food intolerances
  • Multiple chemical sensitivities
  • Insomnia
  • Chronic fatigue
  • Fibromyalgia
  • Hormonal imbalances (heavy periods, painful periods)
  • PMS & Premenstrual Dysphoric Disorder
  • PCOS
  • Skin disorders (eczema, hives, itchiness)
  • Chronic gut issues (burning, bloating, nausea, diarrhoea/constipation)

The Methylation Cycle

The methylation cycle includes several genes and enzymes that play important roles in numerous metabolic pathways. Key genes responsible for the enzymes involved in the methylation cycle include the following:

  • MTHFR gene: Responsible for the production of methylenetetrahydrofolate reductase, the enzyme involved in the conversion of 5,10 – methylenetetrahydrofolate to 5 – methylenetetrahydrofolate.
  • BHMT gene: This gene encodes for the production of the betaine-homocysteine methyltransferase enzyme. The BHMT enzyme is involved in the transfer of a methyl group to form methionine from homocysteine. BHMT can also produce methionine from choline and TMG as a backup pathway from the liver and kidneys.
  • CBS gene: Encodes for the production of cystathionine-β-synthase. Through the transsulfuration pathway, the CBS enzyme catalyzes the conversion of the amino acids homocysteine and serine into cystathionine, in the presence of sufficient vitamin B6, which is then converted into cysteine and glutathione.
  • MTR gene: Responsible for making methionine synthase, an enzyme involved in the synthesis of methionine from homocysteine, with vitamin B12 as a cofactor.
  • MTRR gene: The MTRR gene produces methionine synthase reductase, resulting in the production of SAM and electrons – necessary for adenosine triphosphate (ATP) formation in the mitochondria.

What if I have a mutation in the MTHFR gene?

Well it’s important to know that just because you have a gene mutation, it doesn’t mean that you will have any issues. However, we see hundreds of people that have severe chronic disease, anxiety, depression and so we know that in all likelihood the gene is expressing (causing symptoms). So, what we do is work in restoring the metabolic pathways that the gene/genes are hindering. Often by assisting things to run better your body can heal.

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