What the MTHFR!!!???

What the MTHFR!!!???

Now I have your attention!! 🙂

Have you heard of this word but not the faintest idea what your GP or Naturopath was talking about.

Well you are definitely not alone!!

MTHFR is a complex topic but one that I am very passionate about. Below I have detailed the significance of a MTHFR gene mutation and its effects on your health.

What is MTHFR?

MTHFR stands for methylene-tetrahydrofolate reductase.

It is an enzyme that converts the folate you eat into its active form 5-Methyltetrahydrofolate.

The folate you consume in your diet comes from foods such as – Green leafy vegetables- cabbage, spinach, kale, broccoli, mushrooms and legumes.

This then has to be converted via a number of steps to be able to form active folate 5-MTHFR.
However, the MTHFR gene mutation affects this at the last step, affecting how much active folate you have available in your body.

The way in which each person is effected will vary depending on which gene is effected and how many.

The two genes that are tested are:

    • MTHFR C677T
    • MTHFR A1298C

Loss of function then depends on whether one or two gene are compromised.

Listed below shows you the breakdown of terms and the % of loss of function.

Heterozygous  = 1 copy of the gene from either parent
Homozygous  = 1 copy of the gene from each parent

MTHFR C677T Heterozygous = 40% loss of function *
MTHFR C677T Homozygous =  70% loss of function *

MTHFR A1298C Heterozygous = 20% loss of function (research not known)
MTHFR A1298C Homozygous  = 40% loss of function **

MTHFR C677T & MTHFR A1298C heterozygous = compound heterozygous = 50% loss of function

(Source: MTHFR Support Australia)

Why we need folate

Folate also know as Vitamin B9 and is not the same as folic acid. Folic acid is a synthetic version created in a lab and added to our food, folic acid is not found in nature and is even harder for the body to process.

saladFolate is required for the following:

  • Synthesis of DNA, RNA and SAMe which are needed for optimal cell health. Proper cellular function is critical for our good health.


  • Single carbon metabolism or methylation- responsible for energy production, detoxification processes and hormone production.


  • Amino acid metabolism (for neurotransmitter, serotonin, dopamine and norepinephrine production and detoxification).


  • Formation and maturation of red blood cells, white blood cells and platelet production to support our immune system.


  • Essential for detoxification of homocysteine and reducing recycling.


For all the above functions to happen the body needs to convert folate to the active 5-MTHF (5-methyltetrahydrofolate) with the help of co-factors.


 Conditions/Symptoms can indicate MTHFR?pexels-photo-235355

Past history of miscarriages
Addictive behaviours- alcohol, illicit drugs
Behavioural disorders such as ADHD, OCD, ADD
Long standing fatigue- with no of medical reason
Autoimmune conditions- Hashimotos, Lupus

Long term effects

Common gene mutations such as MTHFR significantly reduce your ability to convert certain nutrients that contribute to methylation, including B vitamins, choline, folate, and more, increasing risk of breast cancer, cardiovascular disease, chronic and autoimmune conditions.

What you can do?

There are now a number of tests available to help you identify if you have MTHFR. Speak to your GP or local alternative health care professional for more information.

A gluten free and diary free diet can have very beneficial effects due to the in-digestibility of the proteins present in wheat and diary irritating the digestive lining and increasing your risk of inflammation and autoimmune conditions.

Other diet and lifestyle recommendations

  • Low processed food – reduce inflammation and burden on detox pathways and systems of elimination
  • Low alcohol
  • No smoking
  • Maintain a healthy weight
  • High in vegetables – alkalizing, natural folate and anti-inflammatory action
  • Modulate stress
  • Remove all environmental and household toxins
  • Eat organic where possible
  • Avoid folic acid in foods and medications

(Source: MTHFR Support Australia)

Support networks

Dr. Ben Lynch
MTHFR Support Australia
Methyl Life

If you would like more information – sign up my blog and I will keep you up to date with all the latest research and health tips.

Follow the link below to book your appointment with me to get your health back on track
Or call me on 0459 741 002



MTHFR Support Australia – www.mthfrsupport.com.au

MTHFR.net- www.mthfr.net

MTHFR: What the Bleep is It?

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