MTHFR Gene Mutation Testing + Chronic Fatigue Syndrome

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MTHFR Gene Mutation Testing – Why You Might Need It!

MTHFR gene mutation testing can show if your genes are causing your chronic fatigue syndrome.

It can be worth carrying out testing for this mutation. This will tell you if it is a contributor to your particular version of this syndrome.

mthfr gene mutation testingAll humans have the same set of genes. Our differences come from the tiny variations in those genes.

These variations influence not only how we look different. They also show how our behaviors differ. Additionally, how our bodies react to different external factors.

In particular how we react to factors like diet and lifestyle.

For example, some people have great difficulty metabolizing caffeine. Others might have difficulty metabolizing alcohol. Whilst others have issues that increase their risk of contracting Alzheimer’s disease.

This is because we all have genetic variations or mutations. These variations influence how we metabolize and use particular nutrients.

One of the most common variations is the MTHFR mutation. This gene variation can impact how well your body metabolizes folate and folic acid. Both are forms of Vitamin B9, required for many functions.

What Is MTHFR, The MTHFR Gene, And MTHFR Mutation?

MTHFR, short for Methylenetetrahydrofolate Reductase is a very important enzyme in the body. It’s necessary for methylation to occur. This metabolic process switches genes on and off. It also repairs DNA amongst other important things.

mthfr gene mutation testingMethylation is also essential to convert both folate and folic acid (each a form of Vitamin B9). It converts it into an active, usable form called 5-MTHF.

The two main functional mutations of the MTHFR gene are MTHFR C677T and MTHFR A1298C. Specifics aside, these are MTHFR mutations. You could think of them as a “defect” which limits production of your MTHFR enzymes.

Most people with a mutation remain unaffected and do not experience symptoms.

For some people, enzyme efficiency can reduce. It can be 30-70% depending on the variant of mutation.

Note that there are many genetic mutations that can hinder methylation. An MTHFR mutation is only one of many, but it’s the most well researched and likely the most important.


MTHFR Mutation May Increase The Risk Of Vitamin B Deficiencies

Those with an MTHFR mutation are at risk for poor MHFR enzyme efficiency. So, folate and folic acid cannot be converted into their active form. Which is, 5-F or L-methylfolate. Thus, those nutrients can’t perform one of their key functions. That is, breaking down (recycling) Homocystine.

Homocystine converts to Glutathione, the body’s master antioxidant and detoxifier. When, levels are low every system in the body suffers. This includes the brain and nervous system.

Glutathione levels reduce with the MTHFR variation. But you need glutathione for natural neurochemical sleep. It is also necessary to ease anxiety, assist the liver and to detoxify the body.

Some conditions MTHFR variation cause are:
mthfr gene mutation testing

  • Anxiety,
  • Depression
  • Inflammation
  • Heavy metal build up
  • Increased pain
  • Neurological symptoms
  • Chronic fatigue
  • Elevated homocysteine levels
  • Heart disease


The inability to eliminate toxic heavy metals. Which causes copper levels to increase and zinc to decrease. High copper can cause low ferritin, high folate and B12.

To learn more about heavy metal toxicity poisoning click here

When the MTHFR gene is working there is a multi step chemical process known as Methylation. This performs many tasks including:

  • MTHFR works with the folate vitamins to break them down.
  • Homocysteine converts to Glutathione.
  • MTHFR converts the amino acid homocysteine to methionine. The body uses this to make protein, use antioxidants and help the liver to process fats.
  • Methionine eases inflammation, converts estradiol to estriol (Estrogen) while helping with depression.

Methionine converts in the liver to SAMe. Which is, an anti-inflammatory agent that also supports your immune system. It also helps the proper breakdown of brain serotonin, dopamine and melatonin. And contributes to the growth, repair and maintenance of the cells.

This Methylation pathway is critical to cut toxins and heavy metals. It reduces your cancer risk and takes the stress off the adrenals.

A mutation of the MHTFR gene sequence can result in reduced enzyme activity. So there is a reduction in the availability of the methyl group. This results in dysregulation of mitochondrial function and reduced ATP production.

For more information on mitochondrial function click here

Genetic Variations Of MTHFR

mthfr gene mutation testing

The two MTHFR variation positions are C677T and A1298C, and are common. Mutations are heterozygous and homozygous. Hetero means different and Homo means the same. Zygous refers to degree of similarity.

Heterozygous MTHFR Mutation – Indicates that you have one normal variation (from one parent). And one variant that is deficient from the other parent. This is the most common and less severe of all the mutations. This mutation will be on either the 667 or 1298 position.

This variation will perform at 55-70% efficiency compared to normal.

Homozygous MTHFR Mutation – Indicates that you have one copy from each parent. This mutation will be either the 667 or 1298 position but have 2 genes affected.

This variation will perform at about 7-10% efficiency compared to normal.

Compound Heterozygous MTHFR Mutation – This is a variation with 1 mutation on the 667 gene and 1 mutation on the 1298 gene. This combination is more challenging. You will have symptoms of both genetic variations.

So What Does All This Mean?

We already know that chronic fatigue syndrome is multi factorial. And it affects several body systems.

With MTHFR mutations if the methylation cycle does not work, various systems malfunction.

The Immune and Detoxification Systems do not work. Meaning your body cannot heal from infections and viruses. Thus, the anti oxidant system doesn’t work.

One system malfunctions and it seems to create a cascade of symptoms. It is worth carrying out MTHFR gene mutation testing. Which will help when attempting to work out the root cause(s) of your chronic fatigue syndrome.

Is There Any Treatment?

A naturopath will give you a regime of supplements to support the methylation cycle. This will include B Vitamins in their methyl form. For more info on how it can be treated click here

However, it’s best to work with your naturopath to come up with a treatment plan to suit your particular variation.

Putting It All Together

It is definitely worth carrying out MTHFR mutation testing. This is a common test that your doctor or naturopath can easily arrange.

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