MTHFR is an acronym for an enzyme that changes the folate that you eat into an active form that you can use in your body.

How it gets more confusing is that the MTHFR gene and the enzyme have a very similar name! 

Simply put, the MTHFR gene makes the MTHFR enzyme. 

In more scientific language the gene, MTHFR (aka 5,10-methylenetetrahydrofolate reductase) gene makes the protein, MTHFR (methylenetetrahydrofolate reductase) enzyme.

That’s a bit of a mouthful. So, it is MTHFR for short.

Simply, without this one major working efficiently you may not be able to Methylate properly.  Methylation is a big name for a simple transfer of one Carbon and 3 Hydrogen atoms that when donated and received starts a cascade of biochemical actions. 

This one gene has been highly researched and is very significant in many disorders and disease processes, including Thyroid function.  And we can see why when folate is needed for cell growth and repair and involved with DNA and RNA replication.

We all know that folate is imperative to start taking before and during pregnancy. This is because the folate is involved in making new cells and without it can cause Neural tube defects which are severe birth defects of the brain and spine of the newborn.

We can see in a diagram of a pathway that the folate takes to get from what is in your food, or supplements.  When you ingest it, it passes to the small intestine and is processed, almost like conveyor-like process and is altered by a number of enzymes. This process uses B2, B3, B6, B12, Vitamin C, Zinc and an acidic environment.

The basic outline looks like this:

Unfortunately, the synthetic form, Folic Acid, that is widely included in many processed foods and supplements block the natural folate from converting into the active, and much-needed form of 5-MTHF.

It is extremely common that the words folate and folic acid be used interchangeably without much thought as to their true meaning.

First of all Folate

  • Also called Vitamin B9
  • The natural form that you get from whole foods
  • Needed for DNA production and RNA repair
  • Needed for neurotransmitters and detoxification
  • Needed for formation of RBC, WBC and Platelets

Folic Acid

  • This is a synthetic form
  • Commonly used in supplements and added to foods – check bread and cereal labels
  • The enzyme that processes Folic acid works very slowly and can only process 150-200mcg per day
  • Folic Acid that is not processed is called Un-Metabolised Folic Acid (UMFA) which is of no value in the body

Then there is Folinic acid

  • This is supplement is also called 5-formyl tetrahydrofolate
  • Important for making DNA
  • In the body this is made using B6 and Magnesium
  • This still relies on being converted into the active folate form by MTHFR

And finally: 5-MTHF

  • Also known as Active Folate, 5-methyltetrahydrofolate, 5- methyl THF, or methylfolate
  • This is produced at the end of the Folate pathway by the enzyme MTHFR
  • An important doner for Methyl groups for the Methylation Cycle

When you get your genes tested for MTHFR the results show that you are a carrier of one or two of the genes, C677T or the A1298C.

To understand what your results mean, I need to take you back a step or two and talk about genes and the basics of how they express in the body.

To make a gene you need two parts.  One is inherited from each parent to make a pair. When both parents give their child matching genes it is called Homozygous (Homo = Same). When each parent gives their child a different gene that is called Heterozygous (Hetero = Different).

A gene is made up of a Helix shape with pairs of nucleotides.  These pairs carry genetic information to make proteins and can be very on long strands of DNA.

It has been discovered that there are common mistakes in gene sequencing and these are called polymorphisms. Poly = many, and morphisms = forms.

One mistake is called a single nucleotide polymorphism, snp for short.

When making the MTHFR gene there has been recognised as many as 34 snps. Two main ones have been researched extensively and they cause consequences within the body.

These are:


  • Sits at position 677 along the chain
  • It means a nucleotide base called Cytosine (C) is swapped out for Thymine(T)
  • When this gene uses this base code to make the enzyme it will switch the protein that is used from alanine to valine.


  • Sits at position 1298 along the chain
  • This means that a nucleotide called Adenine (A) is swapped out for a Cytosine (C)
  • When this gene uses this base code to make the enzyme it will switch the protein that is used from glutamate to Alanine.

So, What are your chances of having an MTHFR polymorphism?

There was a study in 2003, published where 7,130 newborns from 16 areas in the Americas, Europe, Russia, China, and Australia (NSW) were tested. Newborn babies were tested,d 500 of them from New South Wales.  7.5% were found to have two copies of the gene with 41% of the population were found to have 1 copy of the Gene.

MTHFR Gene Results Classification

Your personal results will tell you if you have the gene polymorphism. 

MTHFR C677T Heterozygous (one snp) = 40% loss of function

MTHFR C677T Homozygous (two snps) =  70% loss of function

MTHFR A1298C Heterozygous (one snp) = 20% loss of function (research not known)

MTHFR A1298C Homozygous (two snps) = 40% loss of function

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

If I have you curious now, yes, you can absolutely just test for MTHFR.  Your GP may run a test, and as far as I know, it is not covered by Medicare.

You can do this via blood or saliva, let me know if you would like to be tested and I will arrange this for you.

However, before you do, you may want to consider having more than one gene tested, because like anything it is just one tiny piece to a larger puzzle. You could be tested and find that you are low risk, however, other snps in the pathways may be an issue, so therefore your coping mechanisms may be just a low as if you were to have a homozygous snp.

There are a few companies that offer genetic testing, both online or through your health professional.

Then what do you do about your snps, besides learning to live with them and not against them is key. The most important thing you can do easily and straight up is eating as clean as possible supplying the body with natural nutrients, and then diving into other environmental factors that may be inhibiting the function of your genes that are expressing snp symptoms.

What kind of body are you living in?  If it is a hypothyroid, one, you will be slow functioning and perhaps auto-Immune.  Both conditions are affected by each other moment by moment.

The thyroid is trying its very best to keep the body regulated when it is being besieged by antibodies and the antibodies and the inflammatory cascade is like a run-away train because the body doesn’t have the resources to calm it down.

Let’s bring in a major player in both of these instances, and that is the gut.  I’d like you to take a moment and think about what you ate yesterday and how you woke up feeling today?  Were you alert and ready to leap out of bed and nail your day, or were you sluggish, a little sore and feeling ‘off, or worse, you hardly slept are very sore and in pain, and have to really push yourself to face another day?

I’m going to make the assumption that there that you are not jumping out of bed feeling awesome, because you wouldn’t be looking for sources, like mine to help you feel better.

Or, the second scenario (you are sluggish, a little sore, and feeling ‘off’) is typical of sluggish metabolism and potential auto-immune brewing or early stages of it, and the final scenario (very sore and in pain and have to really push yourself to face another day) is where that inflammatory cascade is most likely creating physical change and damaging as we speak.

These things don’t just happen overnight.  They take years, even decades to develop.  Thyroid antibodies can take 7 years to develop and show up in blood tests. 

Back to my question earlier, what did you eat yesterday?  Unfortunately, this is where it gets really tricky, because while yesterday’s food may not trigger your symptoms, (but maybe the most obvious) it’s the day before, or even the week before may have as well, so it makes working out which foods are activating your immune system really difficult and challenging.  

Then, what starts to happen we can start to eliminate foods in a desperate bid find that offending food.  I know how difficult this is, because when I had my bad flares of Psoriatic Arthritis, I did the same. Have you ever done that? Taking out healthy foods from your diet, becoming even more reactive to foods that once you could eat? You think that you are getting healthier, but instead, you feel like you are getting sicker and sicker, and you most likely are, as you are eliminating major sources of vitamins and minerals, to keep your body working.

So, what’s going on, on the inside?

Basically, the digestive tract is a big long tube from beginning to end.  That tube lining is like the skin covering your body but it’s on the inside, but it has different linings in each area.  For example, the stomach’s cells can handle the strong hydrochloric acid, that your hands could not, the small intestines are almost porous-like and are dynamic, and flexible to the foods that are floating past.

When you think about it, those tissues are exposed to the outside world, so not only do they have their methods of selectively nutrients to enter the body, they also have to have some protection.

Like think of them as being rows of gates, and then there is a guard to make sure the gates are being opened and closed to the people having a guard at the gate is your immune system.

The gut has an army of immune cells just hanging around on the inside wall of the digestive system, just keep watch and making sure nothing untoward is coming in.

So, you may have heard of ‘leaky gut’, this term is used quite freely and it is really bad if you have it. Well, we all do to a certain extent, the cells need to pull apart sometimes just to let some larger particles come through, like curcumin.  But we want it to close again once we have accepted that larger particle.

Unfortunately, by eating the wrong foods for a long time, we can inadvertently have allowed the connections of the cells to become weak.  Then what happens is normal good food can escape into where the immune system is and be seen as baddies and we have an immune attack.

When this happens for long enough, we can trigger an auto-immune response in our body because normal tissue is mistaken for problems.  The most common food trigger is gluten for Hashimotos.

Rheumatoid and other autoimmune diseases can be flared or activated by the imbalance of the gut being constantly activated by food – and in many cases it can still be good food, which is really unfortunate because then we start missing out on essential nutrients we need to operate our body and that’s when our friend cortisol begins to take over and our body starts living in a stress response, our blood sugars become unbalanced, we are tired, feeling low, unmotivated, sore, and over time, become more anxious and susceptible to the hits of life.

The first thing is to begin putting healthy food into the system.  Of course, eliminate the trouble foods that you know aren’t working for you, but then work on the gut.  Because it is not the food, it is the environment.  Long-term restoration is key, if you have an auto-immune issue, while a probiotic will help, it’s not going to change your gut microbiome and calm down that inflammation to the extent that you need it to.

There are so many gut irregularities to go into, there are certainly some good gut support nutrients, but I have seen over and over, that eating a nutrition plan that is matched to your body through your own blood has amazing outcomes.  Then backing that up with supporting the gut helps regulate and calm the immune system at the front line so to speak.

If you’d like to know more about this or other topics, you are welcome to join my free membership on face book. Thyroid, Metabolic, Hormone Harmony Hub. 

I’d love to see you there

Inspiring Wellness





[1]Benjamin Lynch ND, Folate Metabolism and MTHFR: Introductory Overview of an Essential Gene

Leclerc D, Sibani S, Rozen R. Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR) and Overview of Mutations/Polymorphisms. In: Madame Curie Bioscience Database [Internet]. Austin (TX): Landes Bioscience; 2000-2013

Nefic H, Mackic-Djurovic M, Eminovic I. The Frequency of the 677C>T and 1298A>C Polymorphisms in the Methylenetetrahydrofolate Reductase (MTHFR) Gene in the Population. Med Arch. 2018;72(3):164-169. doi:10.5455/medarh.2018.72.164-169

Pin It on Pinterest

Share This