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The MTHFR Mutation


I first became interested in the MTHFR gene after Dr Tanesha Wards said that many of her long covid patients with POTS/dysautonomia are found to have an underlying defect in this gene.


I also listened to a webinar by Dr Tara Fitzgerald “The Dance of Methylation”. The MTHFR gene makes MethyleneTetraHydroFolate Reductase, an enzyme that breaks down an amino acid called homocysteine.

The MTHFR mutation is a genetic mutation inherited from our parents. There are 2 variants, C677T and A1298C. It is said to occur in 25% of the Hispanic population and 15% of Caucasians.


In most only one gene in the pair is mutated. This causes problems converting (“methylating”) folate (Vitamin B9) into methylfolate. It also methylates Vitamin B12. With one gene mutation it works at around 50% efficiency. With two mutations at about 10%.


Methylation occurs in all our cells at a billion times a second!! VITAL!! It’s roles:


  • Involved in cell division and renewal

  • Provides healthy immune cells especially T cells

  • Synthesizing and clearing adrenaline

  • Producing energy for cells

  • Detoxification in the liver.

  • Reducing inflammation

  • Clearing out excess oestrogen and histamine.

  • Keeping homocysteine levels in balance - an increase can lead to blood clots, heart disease and strokes.

  • Helps make glutathione - an antioxidant involved in reducing chronic inflammation

  • Direct role in producing serotonin and dopamine which links to mood disorders.


So you can see that if your gene is mutated and methylation is only working at 10 -50% how all the above processes may be compromised. LONG COVID anyone????

Who should be screened for the defect?

Asthma, allergies, bipolar, cancer, chronic fatigue, depression, diabetes, fibromyalgia, heart disease, strokes, insomnia, neuropathy, thyroid disease, recurrent miscarriages, neural tube defect pregnancies.


Treatment:

  • Take methylated B9 and B12 - done carefully as incorrect doses could increase anxiety, nervousness and depression

  • Increase methylation

  • Diet: eggs, pumpkin and sunflower seeds, organic meat, dark leafy greens, pulses, peanut butter, berries

  • Exercise

  • Stress reduction / switching on the PS state

  • Stopping smoking

  • Improved sleep quality


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