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MTHFR, What’s the fuss?

MTHFR, What’s the fuss?

MTHFR, What’s the fuss, began several years ago for me when I noticed that several of my patients continually suffered from fatigue and stress and after providing specific nutrients their health improved. Surprisingly for others nothing changed.  I kept asking myself what is going on? In times past, there has been a belief that your genes are set in stone and therefore there is nothing you can do to change them. In other words you were doomed with what you have! We know know this is no where near the truth. Your diet, lifestyle and the environment you live absolutely make a difference. You can influence your genes!

When scientists uncovered the Human Genome and more about  our gut microbiome, the understanding came that ‘genes are expressed’ or ‘triggered’ by what you eat, the nutrients supplied to it, the lifestyle you lead and the environment surrounding you. Your life choices do impact your genes!

What is the MTHFR gene? 

MTHFR genetic SNP (mutation) was discovered in 2003 as part of the Human Genome Project.  It produces an enzyme also called MTHFR. This enzyme produces methylenetetrahydrofolate reductase (yes it’s a long word however you don’t need to know this).  It is involved in many important biochemical pathways of the body. It processes folate through the energy cycle and is needed for DNA production and RNA repair, methylation, neurotransmitter production, maturation of red and white blood cells and detoxification.  Folate (vitamin B9) is not the same as folic acid (which is synthetic). It is commonly fortified in cereals today and is commonly found in multivitamins.  For the above processes to occur the body needs to convert folate to its active form (5-MTHF or 5-methyltetrahydrofolate) with the help of cofactors.

The MTHFR gene can be affected by a number of polymorphisms, (defects as they are also known) on the gene. These faults or SNPs as they are also called can be either heterozygous, which is one fault (has come from one parent), or homozygous (two faults which has come from both of your parents).  As a general rule of thumb homozygous faults are worse than heterozygous faults. The most commonly tested MTHFR SNP is C677T  & A1298C, which make it more difficult to convert folate into its active form which is required by the body for hundreds of biochemical pathways.

Up to 50 per cent of the population have an inborn genetic error which reduces their ability to process folate. Supplementing with folinic acid (or 5MTHF) and providing essential cofactors vitamins B6, B12 and B2 (and others) is essential for supporting healthy folate metabolism and other vital biological processes.  Supplementation of vitamins or minerals is not recommended if not required and testing can be carried out for this mutation.

The Current MTHFR Tests

SNP’s are currently tested (through a cheek swab or blood test so it’s easy!)genetics 1

  1. MTHFR C677T
  2. MTHFR A1298C

How could it potentially affect you? If you are:

Heterozygous means one copy of the gene from either parent

Homozygous meaning a copy of the gene from each parent

MTHFR C677T Heterozygous = 40% loss of function

MTHFR C677T Homozygous = 70% loss of function

MTHFR A1298C Heterozygous = ? loss of function (research is unknown)

MTHFR A1298C Homozygous = between 50-70%

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


Brief overview of cycles

What are the Signs and Symptoms of the MTHFR gene fault?
  • Thyroid Dysfunction
  • Diabetes
  • Depression
  • Anxiety
  • Fatigue
  • Cardiovascular disease – elevated cholesterol, hypertension, fat metabolism issues
  • Food Intolerances to food chemicals like Amines, glutamates etc.
  • Poor Concentration & Memory
  • Weight gain
  • Chronic Illness (often due to an inability to recover from infections like glandular fever)
  • Pyrroles or Mauve Factor
  • Miscarriages & Infertility
  • Digestive complaints & chemical sensitivities
  • Chronic Fatigue syndrome
  • Insomnia
  • Hives
  • Headaches
  • Chronic viral infections
  • Recurrent miscarriages & infertility
  • Fibromyalgia

Even though you may have a gene mutation it does not necessarily mean that it is ‘expressing’ itself or actively engaged in your body.  You may be managing it through appropriate dietary and lifestyle choices.  Many people may have the MTHFR gene ‘SNP’ however experience no signs or symptoms.  This ‘switching on’ can occur or be triggered after life stresses or when nutrients are deficient or in excess in the body.


Make an appointment today with Gaining Health Naturally, Karen Green – Brisbane, to check if this is affecting your health.  It is a simple check with simple solutions!

I have found this occurring in many clients with thyroid, insulin resistance, obesity, heart conditions, chronic conditions and autoimmunity.

Karen has studied with Dr Ben Lynch – Check out Karen here:

MTHFR practitioners directory – Karen Green

Gaining Health Naturally Naturopathy Brisbane, Sunshine Coast Qld

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