As I have been diagnosed with homogeneous MTHFR (or, mother-fucker) mutations, one from mum and one from dad, I have started to absorb as much literature, research and information I can about it. This vital piece of information is going to become a very important part of my healing journey, and opens me further up to the world of genetics.

One thing people want to know about this is:

“What does having this mutation mean?”

To talk about mutations with MTHFR, we first have to talk about what the gene is responsible for.

MTHFR is the enzyme that adds a methyl group to folic acid to make it usable by the body, and is involved in the metabolism of folate. Seems like something simple, but MTHFR is responsible for a key aspect methylation.This gene’s functionality is essential for the use of B9 and folate.




Folate is required in the following processes:

  • Detoxification processes
  • Maturation of RBC + WBC
  • Amino Acid Metabolism
    • involved in creating neurotransmitters such as: serotonin, dopamine and epinephrine)
  • Various critical activities involving the donation of methyl groups

The process above can only happen if the folate we eat is converted to an active form that can be readily used in the body named 5-MTHF.

So what is methylation?

Methylation is the addition of a methyl group to another molecule, and methyl groups: turn our genes, neurotransmitters, the stress response, and enzymes on and off. They repair tissue, help us build muscle, protect against damage and aging, detoxify by helping to supply glutathione (which is the most important antioxidant in our bodies), and they give us energy.

Those of us with one or (two in my case) MTHFR gene mutation/s have a highly reduced ability to convert folic acid into a usable form by the body. Therefore if the gene is expressing, those of us that don’t eat a lot of dark uncooked leafy greens (one of the only places where folate is found), quickly end up with some issues that could start manifesting less seriously with a low mood, anxiety, food allergies and fatigue.

To make it worse, any foods that contain Folic Acid, which are processed foods such as breads, and many supplements, can actually become toxic to us due to the build-up. This is because it we cannot convert it into the folate our body needs for many processes

So you can see by now, that if you have a mutation in this gene and it is expressing (a key point that will be discussed in another blog post, you can come across a whole host of health issues that can become very serious if untreated.

Conditions Associated with MTHFR Defects:

  • Cancer
  • Diabetes
  • Pulmonary Embolisms
  • Autism
  • Parkinson’s
  • Immune Deficiency
  • Alzheimer’s
  • Dementia
  • Chemical Sensitivity
  • Chronic Fatigue syndrome
  • Depression
  • Alcoholism
  • Addictive behaviours
  • Insomnia
  • Down’s Syndrome
  • Chronic Viral Infection
  • Thyroid Dysfunction
  • Neuropathy
  • Infertility
  • Bipolar
  • Allergies


Can you imagine preventing half of these chronic illnesses from manifesting if we knew how to support our Methylation process or stop the gene from expressing in the first place? If Doctor’s knew the signs to look out for, and we conducted a simple genetic test, we would be able to prevent many of the issues (particularly mental illness, which I had a long hard battle with) by supporting our body.

That’s why it has become a personal mission to spread as much information on this as possible, while testing, and experimenting with the ways I can lead an optimal life with this



The Genetics Home Reference – MTHFR
MTHFR Support Australia

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