Genes & Methylation

Methylation and MTHFR

Methylation is a simple process of atoms being transferred to another substance. Whilst this may seem  simple it can be a complex process to make this happen. Methylation requires the Folate Cycle, Methionine Cycle and the Transsulphuration pathway all to be working together for this simple but complex process to happen. These three are like cogs in a wheel, each one feeds into the other to make it happen.

Although this is a very simple diagram showing how the cycles all need to work together, there are in fact many steps within these cycles where things can go wrong.

The Methylation process is important for many reasons as it works in the neurological system, cardiovascular system, hormonal balance, detoxification processes and it is part of your energy cycle.

Some of the functions of Methylation include the following:

  • Turns genes on and off
  • Repairs DNA and RNA.
  • Detoxifies chemicals and heavy metals.
  • Processes hormones.
  • Builds immune cells.
  • Turns stress response on and off.
  • Provides us with energy.
  • Reduces Histamines.
  • Repairs cell membranes and produces myelination of nerves.
  • Supports neurotransmitters to prevent depression, anxiety, insomnia and aids brain function.

Why would your Methylation Pathways be compromised?

Genetic variations which are called Snp’s – single nucleotide polymorphisms – can often be responsible for some of the issues with the Methylation cycle. A Snp is a DNA sequence variation in a single nucleotide at a specific point.

With Snp’s you must also understand the term Epigenetics. Epigenetics involve the way the environment impacts the molecules in your body, which can then impact on your genes. What this means is that you can be carrying the Snp but not feel the effects especially if you are active and have a healthy diet. It is about understanding your susceptibility to these variations.

Let’s take one gene called MTHFR to explain a Snp. This gene is the most known and tested gene that you are likely heard about. A MTHFR Snp happens in the Folate cycle and can have many repercussions.

MTHFR Snps include the genes C677T and A1298C. If you have one of these snps you can be either heterozygous (meaning you have one copy from one parent) or homozygous (having 2 copies, one from each parent). Having a homozygous copy of the gene C677T, means you are about 60-70% more likely to experience a loss of function which will make you more susceptible but again this can be dependent on your diet and lifestyle.

Having issues in this methylation process can lead to symptoms such as:


AnxietyJoint PainMuscle PainInsomnia
DepressionNausea/VomitingSeizuresStomach Pain
SweatingPalpitationsSuicidal thoughtsLow Calcium


MTHFR is the gene variation that most people will tell me they have. But there are about 30 different types of variations that can impact on the methylation process. There are so many more areas that need to be assessed when it comes to methylation. There is often a combination of Snps that can go alongside this variation and some of these other Snp’s include:

  • COMT
  • CBS
  • PEMT
  • MTRR
  • MTR
  • FUT2
  • TCN2

These variations have quite a lot to do with how your body might use and process zinc, Vitamin B6, Vitamin B2, Vitamin B12 and magnesium. They can also impact on your ability to utilise serotonin and dopamine.

Having a COMT Snp can impact on your liver metabolism especially when it comes to estrogen. It also has a role in the way you use your dopamine, so if you feel very unmotivated this could be a causative factor.

A CBS Snp is a biochemical imbalance involving the synthesis and metabolism of haemoglobin. The by-product of haemoglobin is called hydroxyhemopyrrolin-2-one (HPL) also known as Pyrrole. People who have Pyrrole Disorder, produce excessive amounts of these Pyrroles which then bind to or stop use of Zinc, Vitamin B6 and Omega-6 fat GLA. Thus, these nutrients cannot be used by the body. You may also experience low haemoglobin, especially if this has been an ongoing issue.

A PEMT Snp is involved with choline and is reliant upon estrogen, so therefore if you are post-menopausal with this Snp you likely need supplementation. In this gene Snp you may see an increase in fatty liver signs and memory impairment. This gene is also involved with bi-polar, breast and prostate cancers.

Vitamin B12 is involved with the FUT2 and TCN2 gene Snps. High homocysteine can be associated with the MTR, MTRR as well as the MTHFR gene.

So, as you can see it is a rather complex topic of conversation, but a rather important one though, especially if you are experiencing any of the issues above.

If you are curious about some of this information and you have any of the above conditions that you haven’t been able to correct, then maybe you need to have your methylation process assessed.

To discuss all things methylation related, you can book in for a free 15 minute chat. You never know this could be the answer you have been looking for.


Authored by Jan Caton BHSc-Nat. Jan is the owner and Naturopath of Magnolia Apothecary and owner of The Conscious Spender. Jan has clinics in Mt Evelyn and Kilsyth South and loves to talk about Methylation.

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