The MTHFR Gene: What It Is, Why It Matters, and What You Can Do About It
Updated: Sep 29
If you like to keep up with new health research, you have probably heard about the MTHFR gene. Around half of the population carries a variation (SNP*) in this gene to some degree, so it is well worth understanding.
Why I had the test myself
A couple of years ago I had the MTHFR test done. I had three reasons.
First, I wanted to know my own profile. Second, when I recommend a test to clients, it helps to have been through the process myself, because I understand the questions and concerns you may have. Third, I wanted to share the results with my family so they know whether there are health tendencies they can support early through diet and lifestyle.
My main reason, though, was to understand where I needed to support my own detoxification. I have had ongoing health issues, and emerging research links several of them with reduced MTHFR activity. These include fibromyalgia, decades of hormonal health challenges, and a history of migraines, pre-eclampsia and insomnia. I also grew up on an orchard where many sprays were used. I was heading towards my mid 50s, so it was high time to get serious about my health.
I suspected my MTHFR enzyme activity might be reduced. I wanted to see whether that was true and by how much. Having a variation does not mean everyone will develop health problems. That depends on many factors, some of which I cover below.
What the MTHFR Test Looks at
This simple cheek swab shows how well your MethyleneTetraHydroFolate Reductase (MTHFR) enzyme is working. The enzyme helps convert folate into methylfolate, the active form your body can use.
A weakness in this gene has been associated with a range of health concerns. These include cardiovascular issues, some mental health conditions such as depression and anxiety, hormonal imbalances, and a reduced ability to methylate.
Methylation is involved in many processes in the body:
• fighting infection
• switching genes on and off (epigenetics)
• detoxifying environmental toxins
• making neurotransmitters
We live in a world with a lot of environmental toxins. These include sprays and herbicides, heavy metals, fuel and paint fumes, industrial chemicals, food additives and preservatives, cleaning products, skincare and hair dyes. Good methylation helps your body manage this load.
Understanding your results
The two most commonly tested MTHFR variations are A1298C and C677T. We each carry two copies of each.
• Homozygous wild type means two normal copies.
• Heterozygous means one normal copy and one variant copy.
• Homozygous variant means two variant copies.
My result was heterozygous for A1298C (one variant copy, one normal copy) and normal (so two good copies) for C677T. In practical terms, this means my MTHFR enzyme works at about 20% less than normal.
Other people I have tested have had a variation in C677T. One variant copy can reduce enzyme activity by roughly 30-40%, and two copies can reduce it by up to 70%.
Someone with one variant copy of each SNP* may see a reduction of around 40-50%, with an added cardiovascular consideration.
Genes are not destiny
We are born with our genetic profile, but a genetic weakness does not mean symptoms or disease will follow. Many factors are involved:
• lifestyle
• how we manage stress
• sleep
• diet
• how toxic our environment is
• the rest of our genetic profile
Never underestimate the effect of chronic stress on your health.
Where to start if you have an MTHFR variation
1. Eat foods that support methylation. Choose foods rich in natural folate and B12. Examples are citrus fruits, avocado, nuts and seeds, legumes, broccoli, leafy greens, fish, eggs, beef and shellfish.
2. Drink filtered, chemical-free water.
3. Avoid synthetic folic acid. Folic acid is the synthetic form of folate. It is hard to process and can interfere with your body's conversion of natural folate into methyl-folate. It is found in cheap or low-quality supplements and in fortified foods such as bread, cereals, rice, pasta and white flour, so read your labels. Since August 2023, folic acid has been mandatory in non-organic wheat flour for bread-making in New Zealand.
4. Reduce toxic load from food. This means alcohol, processed foods, sugar, additives and GMO foods. The book The Chemical Maze is a great resource.
5. Choose organic and free range wherever you can.
6. Avoid environmental toxins such as sprays, pesticides, herbicides and heavy metals. see article.
7. Use a good HEPA air filter in your home.
8. Choose natural fibre clothing and furniture, which are less likely to contain flame retardant chemicals. When we recently had a house fire I was shocked to see how black all the smoke was. The firemen told me it is due to all the soft furnishings etc being petroleum based.
9. Manage your stress. This one matters most - I can help you with this in many ways. With Bowen Therapy, herbal medicine, Soul Centre Healing Hypnosis, Flower essences and naturopathic guidance.
What can lower or improve MTHFR A1298 function
Factors that reduce function: chronic stress, oral contraceptives, high levels of mercury, arsenic, lead and aluminium, synthetic folic acid, aspartame, oxidative stress and high protein diets.
Factors that support function: vitamin C, L-arginine, folate, B6, magnesium, selenium, holy
basil, royal jelly and deep breathing.
A Caution: methylated B vitamins are not right for everyone, and taking them without knowing your MTHFR and methylation status can trigger an over- or under-methylation reaction (symptoms like anxiety, insomnia or headaches). Test before you supplement.
Book your MTHFR test
I will send you a link to arrange your cheek swab. The cost is $335 and includes the test, a 50 minute session with me, and written recommendations covering diet, lifestyle and supplements.
Want to go deeper?
If you would like a fuller picture of your genetics, including methylation, my Comprehensive My DNA test covers 92 genes and 113 SNPs. Read the article here.
* SNP stands for single-nucleotide polymorphism.
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