What does MTHFR stand for and its benefits?
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.
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
- 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.
Problems associated with MTHFR mutations
- Behavioural disorders (ADD/ADHD, addictive behaviour, autism)
- Alzheimer’s disease
- Bipolar disorder
- Cardiovascular disease
- Chemical sensitivities
- Chronic fatigue syndrome
- Immune dysfunction
- Neural tube defects
- Thyroid dysfunction
- ...and many more .
MTHFR and mental health disorders
Homocysteine and MTHFR mutations
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)
The problem with too much homocysteine
So, how do I know if I have an MTHFR gene mutation(s)?
How to treat MTHFR mutation symptoms
Nutrients for optimal methylation
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.
- 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.
- 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.
- 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.