What does MTHFR stand for and its benefits?

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What does MTHFR stand for and its benefits?

What does MTHFR stand for and its benefits?

Thyroid issues?

Chronic fatigue? 

Hormonal problems? 


Autoimmune disorders? 

You’ve probably experienced at least one of these in your lifetime. You’ve probably also been told that at least part of your suffering is “all in your head”. 

Well, research suggests otherwise. In fact, research suggests all of these disorders - and more - have one common denominator. MTHFR. 

The majority of the population has never heard of MTHFR. Which is surprising, considering that an estimated 30-40% of Americans have at least one mutation. What’s more, it’s now known to cause a significant proportion of diseases and ailments in modern society. 

What does MTHFR stand for?

MTHFR stands for methylenetetrahydrofolate reductase: the enzyme produced by the MTHFR gene. It’s this enzyme that’s required for metabolizing folate and breaking down the amino acid homocysteine . 

And what is homocysteine?

Homocysteine is a naturally-occurring amino acid that’s created when your body breaks down another essential amino acid, methionine. This works as a cycle: methionine becomes homocysteine, and then homocysteine is ‘recycled’ back to become methionine again.

Methionine is a sulfur-containing amino acid involved in building proteins and producing certain substances in the body, including the antioxidant glutathione and the molecule SAMe. Methionine is kind of like the ‘good guy’ part of the cycle.

So, what does this have to do with MTHFR? Methylation. 

What is methylation and what does it have to do with MTHFR?

Methylation is a metabolic process that happens in every cell and organ in your body. Think of it as billions of little switches turning on and off every second, controlling all your normal daily functions: your metabolism, your mood, your stress response, and your body’s detoxification processes.

Your body makes methyl groups and recycles them. One of the most important products of methylation is S-adenosylmethionine, or SAMe. SAMe is a universal methyl molecule that donates a methyl (CH3) group required for the proper function of the cardiovascular system, detoxification pathways, and neurological systems . It’s actually involved in the making of neurotransmitters, like serotonin.

The methyl group on methionine is used for adding methyl groups to many other molecules, but it can only do this after methionine has been activated. Methionine's methyl group is activated when adenosine is added to the sulfur of methionine to form S-Adenosyl Methionine (SAM). 

Once the methyl group from SAM has been donated, S-adenosyl-homocysteine can continue through what is called the methionine cycle to be recycled into an activated SAM again. Certain nutrients in food and supplements are required to activate the amino acid methionine into SAM or recycle methionine back to SAM once it donates its methyl group. 

But if your body is lacking in methylfolate, this entire process grinds to a halt. And that leads to a range of symptoms that can end up severely affecting normal bodily functions. This is mainly due to the build-up of homocysteine: enter the ‘bad guy’ (particularly when there is too much of it). 

Proper methylation is required for...

  • Energy production (ATP created via Krebs cycle, CoQ10, carnitine, creatine)
  • Synthesis of DNA, RNA, and histones
  • Repair and expression of DNA (turning genes on and off)
  • Processing toxins so they can be removed from the body (via Phase II liver detoxification)
  • Glutathione production for healthy detoxification
  • Building of neurotransmitters such as serotonin, dopamine, and epinephrine
  • Degradation and breakdown of these same neurotransmitters
  • Making and processing hormones
  • Building immune cells (T cells and NK cells)
  • Building and maintaining cell membranes via phosphatidylcholine
  • Building myelin to protect nerves and to inactivate histamine.

In short, methylation is what keeps you alive. 

MTHFR and its role in methylation

The MTHFR gene contains the DNA code to produce the MTHFR enzyme. This enzyme converts the folate you ingest - whether through food or supplements - into the active form of folate, L-5-Methyltetrahydrofolate (or sometimes referred to as 5-MTHF). This is the form that your body can use at the cellular level . 

5-MTHF is important because it’s your body’s most biologically active form of folate. It is the only form naturally found in your circulation, and is therefore the type of folate used for cellular metabolism. Folic acid, on the other hand, is NOT the same as folate. Folic acid is a synthetic form of the vitamin, so it’s only found in fortified foods and supplements. In order for your body to use folic acid, it must first be broken down and methylated through a complicated four-step process! 

5-MTHF works alongside vitamin B12 as a methyl group donor, which means it’s involved in a huge range of metabolic and nervous system processes. It’s also vital to numerous metabolic pathways in the body.

The other big job of folate metabolism is converting the amino acid homocysteine into methionine. 

But here’s where the MTHFR mutation comes in. 

The ‘big bad’ MTHFR mutation

Each MTHFR gene SNP (single nucleotide polymorphisms) has two copies. You inherit one copy of each SNP from each of your biological parents. Side note: while only 2 specific MTHFR SNPs are well-studied, there are actually over 70 different MTHFR SNPs that deal with folate metabolism. So if you get tested, chances are you will only see results based on two different MTHFR SNPs (677 or 1298), even though many more exist in your body.

Back to these gene SNPs, they have the potential to mutate. This mutation is due to one (or more) single nucleotide polymorphisms (SNPs). SNPs are the variation in a single-nucleotide that occurs at a specific position in the genetic material. 

Abnormal variations of MTHFR can be either heterozygous (one variant) or homozygous (two variations). These variations are passed down from your parents. The more variations you have, the more problems your body will have with methylation.

  • If you have two copies of the MTHFR C677T, or one copy of C677T and one of A1298C, a decrease in the activity of MTHFR enzyme slows down the homocysteine conversion process leading to a build-up of homocysteine in the blood.

It’s estimated that 30-40% of Americans have a mutation at gene position C677T . Scientists are now learning more about how SNPs may correlate with particular conditions in a patient. 

A mutation in the MTHFR gene typically results in a malfunctioning or insufficient MTHFR enzyme. The MTHFR gene mutations will either affect the enzyme’s ability to function normally (it gets impaired) or it can completely inactivate it. 

This impaired function of the MTHFR enzyme leads to significantly lower levels of 5-MTHF (active folate in the body). 

The result? Your methylation function will be reduced. And that’s where the problems begin. 

Problems associated with MTHFR mutations

Mutations of the MTHFR gene can change the way your body breaks down the food you eat and converts its nutrients into active vitamins, minerals, and proteins that you need. It can even affect your body’s levels of certain hormones and neurotransmitters. This can have a major impact on your cognitive function, digestion, cholesterol levels, cardiovascular health and so much more.

Unsurprisingly, this means that a methylation dysfunction can be linked to a variety of disorders and conditions. Some of these include:

  • Behavioural disorders (ADD/ADHD, addictive behaviour, autism)
  • Allergies
  • Alzheimer’s disease
  • Anxiety
  • Bipolar disorder
  • Cardiovascular disease
  • Chemical sensitivities
  • Chronic fatigue syndrome
  • Depression
  • Infertility
  • Immune dysfunction
  • Insomnia
  • Migraine
  • Neural tube defects
  • Neuropathy,
  • Thyroid dysfunction
  • ...and many more . 

MTHFR and mental health disorders 

The active form of folate that the MTHFR gene is required to produce - L-Methylfolate - is the only form of folic acid that can cross the blood-brain barrier. It’s also the form that plays a role in the synthesis of neurotransmitters: particularly serotonin, dopamine, and norepinephrine. These are the three neurotransmitters most important for mood regulation and other nervous system functions. They’re also involved in the mechanism of action for antidepressants. Serotonin is particularly important: it’s your ‘happy’ chemical that plays a major role in appetite, sleep, and emotional health.

Again, not surprising, but this means that the MTHFR mutation is also associated with depression and other mental health disorders. Several studies have shown that those with depression tend to have a genetic variant of the methylenetetrahydrofolate reductase enzyme. What’s more, those described as having “treatment-resistant depression” are shown to have a 76% chance of an MTHFR mutation. 

Homocysteine and MTHFR mutations

In the methionine cycle, methionine is converted to SAMe, the methyl donor mentioned above. 

In losing its methyl group, SAMe becomes SAH (S−Adenosyl homocysteine), which is then converted to homocysteine. Homocysteine is either converted back to methionine, or it enters the transsulfuration pathway to form other sulfur-containing amino acids.

In liver cells, homocysteine can irreversibly enter the transsulfuration pathway (catalyzed by Vitamin B6) to produce the amino acid cysteine. Around 60% of homocysteine is metabolized by transsulfuration in the liver .  

If homocysteine does not enter the transsulfuration pathway, it can be converted back to methionine via one of two pathways. In one pathway, a methionine synthase enzyme catalyzes the transfer of a methyl group from methylated folic acid (methyltetrahydrofolate or MTHF) to homocysteine. This is assisted by vitamin B12, which takes the methyl group from MTHF and adds it to the homocysteine. 

The other pathway occurs in the liver. This is where betaine (TMG) is the source of the methyl group transferred to homocysteine. Selenium deficiency increases transsulfuration of homocysteine, and reduces global DNA methylation .

When these pathways happen properly, there should be very little homocysteine left in your bloodstream.

However, if you have a double mutation of the MTHFR gene, you’ll likely end up with higher levels of homocysteine. And that brings on significant health problems. 

MTHFR Double Mutation Combinations (of the well-known SNPs)

  • 677TT - (referred to as homozygous)
  • 1298CC - (referred to as homozygous)
  • C677T / A1298C - (referred to as compound heterozygous)  

When homocysteine cannot be converted into methionine, a range of health conditions can result. A normal level of homocysteine in the blood is less than 10 micromoles per liter (mcmol/L) of blood. Anything higher should be taken seriously and treated as soon as possible.

The problem with too much homocysteine

High homocysteine affects the way cells use oxygen, causing free radicals to accumulate. Reactive chemical forms such as free radicals can oxidize low-density lipoproteins, which result in the buildup of harmful oxidized fats and proteins within the arteries and, in turn, arterial plaques. 

Elevated homocysteine is associated with cardiovascular disease, high blood pressure, glaucoma, ischaemic stroke and atherosclerosis .

The problem with hyperhomocysteinemia (or too much homocysteine in the body) is that most people don’t know they have it until too late. You’ll probably only have your homocysteine levels tested if you appear to have symptoms of a vitamin deficiency, which again is usually only detected by a holistic practitioner. 

So, how do I know if I have an MTHFR gene mutation(s)?

MTHFR mutations affect different people differently. Some symptoms can be barely noticeable, while others can develop into significant, long-term health issues. People with MTHFR variants are often characterized by low folate levels.

A MTHFR gene test will identify a defect in the MTHFR gene which can cause abnormally high levels of homocysteine or low levels of serotonin and glutathione in the body. This is a finger prick blood spot test that will detect the common DNA sequence SNP variants: 677 and 1298. 

How to treat MTHFR mutation symptoms

If your test reveals that you have an MTHFR mutation(s), take action! You need to support your body with the right nutrients for proper methylation. 

Nutrients for optimal methylation 

  • Folate
    The MTHFR mutation can seriously compromise your ability to convert folic acid into a form that your body can use, so it’s important to avoid any supplements or foods that contain folic acid. 

Supplementing with L-methylfolate has been shown to reduce homocysteine levels by improving your body’s methylation processes. It’s often recommended for those with elevated homocysteine and also for those with treatment-resistant depression. 

One option is Folate 5-MTHF, which is classified as a ‘medical food’ and is available as an over-the-counter dietary supplement. 

However, some of the best methylfolate supplements for those with MTHFR mutations or suffering from related conditions include Methyl-Life™ products (Methylfolate 7.5+, Methylfolate 10, and Methylfolate 15+). A recent study showed that the L-Methylfolate used in the Methyl-Life™ products is one of the world’s purest and most potent.
  • Vitamin B12
    MTR and MTRR are other SNP variants along the methylation pathway that may significantly impact the conversion and absorption of B12 in the body.

Vitamin B12 is crucial for reducing homocysteine. It also plays a major role as a cofactor in the methylation process of L-methylfolate, and is then required for the conversion of homocysteine to methionine. The conversion of homocysteine to cysteine also requires active B-6 (specifically pyridoxal-5-phosphate). 

If you have the MTR, MTRR, COMT, or other gene mutations that may be affecting B12 absorption, it’s crucial to supplement with a highly bioavailable form of vitamin B12. A good option is Methyl-Life’s™ B12 Complete: a full-spectrum B12 product that contains a combination of the top three most bioactive forms of B12 (hydroxocobalamin, methylcobalamin and adenosylcobalamin). These are the forms that can be absorbed and used by your body’s cells immediately, this ensures maximum delivery and boosts optimal health.

Lifestyle recommendations

  • Improve gut health
    A healthy gut microbiome will optimize your body’s ability to obtain nutrients from food, which in turn will support your overall health and wellbeing. Eating probiotic foods such as kimchi, kefir, and miso will boost the diversity of your gut microbiome. Taking a multi-strain delayed-release probiotic supplement will also support the populations of your healthy gut bacteria. Consider spore-based strains like Bacillus as they are unusually resilient and can survive the digestive tract like no other. Mega Sporebiotic™ is a particularly effective product to consider if you choose this route. 

Add gut-healing foods such as bone broth, flaxseeds, chia seeds, turmeric, ghee and coconut oil to your diet. Ghee and coconut oil contain N-butyrate, a short-chain fatty acid which nourishes the cells lining the gut. 

It’s also advisable to reduce intake of inflammatory foods such as sugar, gluten, refined grains, trans fats, and processed snacks. Symptoms of gluten sensitivity and MTHFR can amplify one another, while also triggering an inflammatory response in the body. 
  • Support Phase II liver detoxification 
    Impaired methylation can hinder your body’s ability to detoxify properly, especially in the liver. This makes it even more important to help your body eliminate toxins naturally. You can limit the amount of toxins you encounter by reducing your alcohol intake and avoiding artificial additives in food and chemical house cleaners as these can further impair your methylation. 

Try to eat at least 30-50 grams of fiber per day and drink at least 2 liters of pure, filtered water per day. Exercising five days a week for 30 minutes a day and attend regular sauna treatments or Epsom salt baths.

Minimize stress levels where possible, as stress can decrease DNA methylation. Try mediating and/or practicing yoga. 
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