Dr. Doni Wilson explains what it means to have an MTHFR mutation, why it’s particularly important for women to address, and how to recover without drugs.
Patients often come to see me after they have learned, either from a doctor or through personal discovery, that they have an MTHFR mutation. MTHFR is not just a mouthful of letters that look like they could be a curse word. For many people, it is a long sought-after answer and the validation of health issues such as heart disease, heart attacks, strokes, headaches, migraines, anxiety, depression, fatigue, miscarriages, cervical dysplasia, cancer, and cognitive decline.
Because MTHFR is a genetic mutation, it’s easy to think we can’t do anything for it. But we can – and that’s why in this article, I will discuss:
- What Is the MTHFR Gene and What Does It Do?
- What Are the Symptoms of a MTHFR Mutation?
- How Can We Influence Our Genes?
- How Can an MTHFR Mutation Be Treated?
- How Much Folate Should I Take?
- Finding the Right Folate
What Is the MTHFR Gene and What Does It Do?
The MTHFR gene is responsible for the production of an enzyme called methylenetetrahydrofolate reductase, within our bodies. The role of that enzyme is to turn folic acid into folate, which our bodies use in many ways, such as to make new cells (like red blood cells) and neurotransmitters, as well as in a process called methylation (our body’s way of controlling gene expression). Folic acid is synthetic, while folate is found naturally in foods such as spinach, citrus, and avocado. When we consume folic acid – whether from fortified foods or a substandard multivitamin – our bodies need to convert it to folate in order to utilize it. (If you’re new to this topic, you might want to read my previous article, “Folic Acid and MTHFR – Could You Have a Genetic Mutation?”)
Someone (like me and about 50% of the population) who has one or more MTHFR “mutations” (also known as single nucleotide polymorphisms, or SNPs) is less able to convert folic acid into folate, and therefore less able to benefit from the intake of folic acid. Instead, someone with MTHFR mutations would do better taking folate (also known as methyl-folate, or 5MTHF), the natural state our bodies can recognize and utilize.
As a quick genetics lesson: Human genes are named with letters and numbers, and they are made up of two strands of nucleotides (one from each parent) – that’s what we refer to as DNA. Most of our genes are the same, but about 1% of our genes have slight variations (SNPs) on one or both strands, which is what makes us unique individuals. By knowing your genetic variations, you can then give your body the support it needs.
Two forms of MTHFR mutation are considered clinically significant in terms of our health: MTHFR A1298C and MTHFR C677T. If you have one SNP on either A1298C or C677T, your ability to turn folic acid into folate could be decreased by about 30%. If you have two SNPs on either 1298 or C677T, or one of each, then you may be up to 70% less able to use folic acid.1
What Are the Symptoms of a MTHFR Mutation?
The less efficiently your body can use folic acid, the more likely you are to experience health issues such as those listed above. That is because folate is used by the body to ensure healthy heart function, balanced neurotransmitter levels, energy production, liver detoxification, glutathione production, and new healthy cells such as when growing a baby – making this subject particularly important for women.
NOTE: Having an MTHFR mutation does not mean you will absolutely develop one or more of these conditions. However, if you do not ingest sufficient folate for your body, and take care to avoid ingesting folic acid, you have an increased risk for any of the conditions listed above.
How Do I Find Out if I Have an MTHFR Mutation?
Traditional medical doctors do not generally test for MTHFR mutations, or are not yet trained to address the condition appropriately. Too often, patients tell me they have been told to take folic acid, which is the direct opposite of what they should do for MTHFR. It has only been a little over a decade since geneticists mapped out the human genome. In that time, researchers have started linking specific genes to various health concerns and metabolic processes, but there is still so much more to learn and integrate into medical care.
If I suspect a patient has an MTHFR mutation, I recommend they first do a 23andme ancestry panel, which I can interpret using specialized software. This way we can find out if you have one or more of the MTHFR mutations, as well as look at other genes related to and influenced by MTHFR. We are going to need to address all of those gene SNPs to be successful.
Then, once we know about MTHFR, I recommend a blood test called “homocysteine,” to get a sense of how their metabolism is working and whether they have enough or need more folate, as well as the other nutrients necessary to the metabolic process.
Homocysteine comes together with folate and methyl-B12 to make something called SAM or S-adenosylmethionine (in supplements, it is called SAMe). This process is called “methylation,” because a methyl group is added to create SAM. SAM is the metabolic substance that goes out and does all kinds of good things in our bodies. Without enough SAM, our metabolic processes, including detoxification in the liver, breakdown of adrenaline, and energy production in the mitochondria, come to a standstill.
This is of particular concern for women who take birth control pills. Synthetic estrogens in birth control pills must be processed through the liver. If you have a C677T MTHFR mutation, you are less able to process estrogens well and more likely to become deficient in folate, which leaves you highly susceptible to the side effects of birth control pills, such as blood clots and stroke.2,3,4,5
How Can We Influence Our Genes?
Although this health condition is linked to a genetic mutation, it is important to remember that we can influence our genes.
It used to be thought that our genes directly and absolutely resulted in certain health issues. We now know that just because our relatives suffered certain medical conditions, this doesn’t mean we will definitely experience those same conditions. That’s because our genes are turned on or off, so to speak, by influences in our environment – our diet, exposure to toxins, exposure to stress in general, nutrient levels, hormone balance, blood sugar levels, inflammation, oxidative stress, and so much more.
In my practice, I refer to everything that turns our genes on and off as STRESS. That is based on the definition of stress that I use in my practice and in my book, The Stress Remedy, which includes emotional stress, as well as anything else that creates a stress response in our bodies, such as blood sugar fluctuations, immune reactions to foods, imbalanced gut bacteria, lack of sleep, lack of exercise, and exposure to toxic substances, including mold and metals. Essentially:
Genes + Stress = Our State of Health
Put another way: Exposure to various forms of stress and stress remedies determine whether our genes “express” a health issue, as these factors cause shifts in metabolism, immune function, neurotransmitter processing, and everything else our bodies do all day, every day. That means we have the power to change the future of our health by making healthy choices today.
The single best thing you can do to help your genes and your health is to help your body recover from stress. We are all exposed to stress – it is inevitable. The goal is not to eliminate all stress. It is to reduce your exposure to the stresses you can avoid, and to help your body stay healthy while exposed to stress.
How Can an MTHFR Mutation Be Treated?
Bear in mind, there is NO a one-size-fits-all approach for addressing an MTHFR mutation. Treatment is completely individualized based on your personal stress exposure and your genes.
When working with patients, before we even start adding folate, we prepare their bodies by removing any stresses. These are identified as follows:
- A test for IgA and IgG delayed food sensitivity, so you know which foods are causing inflammation that slows methylation and which foods to stop eating. (To learn more about food sensitivities, you might wish to read my previous article on this topic.)
- A food sensitivity test will also provide an indication of whether leaky gut is present, another stress you’ll want to address. (To learn more about leaky gut, please refer to my previous article.)
- A stool panel is used to identify imbalances of gut bacteria and/or yeast, which can disrupt methylation, as well as inflammation and ability to digest food. (Please refer to my previous article for more on this subject.)
- An adrenal panel shows your cortisol and adrenal levels throughout the day, both of which are our “stress hormones.” When we have determined your stress hormone levels, we can use that information to help your body recover from stress and become more resilient to stress, which help methylation work better. (Please refer to my previous article on this topic.)
- Tests to determine neurotransmitter levels show how your serotonin, dopamine, GABA, and more have been influenced by your genes and stress levels. (Please refer to my previous article for more information about neurotransmitters.)
- Mold, metals, infections, and toxins can all bog down methylation. We can find out if that is the case for you, and then address them.
- Nutrient panels help determine whether you have nutrient deficiencies that need addressing so your metabolic pathways can run more smoothly.
- An organic acid panel shows your oxidative stress status and mitochondrial function, both of which can decrease if methylation is not working well.
- Over-production of sulfur and uncoupled nitric oxide can also prevent healthy methylation, so we need to check for them, as well.
Once we have compiled this information, we address what needs to be addressed, all with the goal of optimizing methylation and understanding how much folate is best for you as an individual.
How Much Folate Should I Take?
I never recommend a standard dose of folate, as it varies greatly from person to person. As mentioned, I first recommend my patients take a homocysteine blood test, to determine how much folate their bodies require; this can be done through a regular blood test at a regular lab. Alternatively, we can do a specialized blood test to measure homocysteine, as well as SAM and several other parameters, if we want/need to be more specific.
Then we also need to look at your other genes in the methylation pathway, as well as the sulfur, histamine and neurotransmitter pathways, so that we can understand your whole genetic picture related to methylation and address it accordingly. To do this, we start with a 23andme panel and then use software to analyze your genes. I’ve been studying these genes and programs for years, so you don’t have to (unless you’d like).
Optimally, your homocysteine level should be about 7. If it is higher than 7, it could mean you need to take more methyl-folate, methyl-B12 and vitamin B6.* All three are used in the process of using homocysteine to make SAM. If your homocysteine level is less than 5, you may need more choline, which is a precursor nutrient to homocysteine.
I always recommend starting slowly with doses of folate, and to take it in combination with other nutrients in the methylation cycle (such as methylcobalamin and vitamin B6) and other related pathways. Otherwise, it’s like pressing on the gas while the car is not turned on, or while the parking brake is set. You’ll know if that’s the case because you’ll feel worse when you take folate. You might get a headache or feel anxious (more than usual). These symptoms mean you need to hold off on taking folate and first address the other related pathways, and remove the “stresses” that are bogging down your pathways. You can learn more about supporting your methylation cycle here.
Finding the Right Folate
Whether you know that you have an MTHFR mutation or not, folate is vital to our health. That is why I believe all multivitamins, prenatal vitamins, and B-complex products should switch ALL of their formulas right now to contain only methyl-folate, not folic acid. Until that happens, there are many of us who could be taking in folic acid instead of folate without realizing it. I’m so committed to making sure that folic acid is eliminated from products that I ONLY carry products that contain folate in my store, DrDoniStore.com.
MTHFR is not something you are likely to find out about from your regular doctor, and if you do, you are likely to be left on your own to figure it out. If you prefer NOT to work alone, I have created a package specifically for addressing MTHFR mutations. So, whether you are planning a pregnancy, want to put an end to headaches and anxiety, or you are simply sick and tired of being sick and tired, I can guide you through the steps to achieve your health goals.
I’m also considering whether it would be helpful for me to offer a group program – perhaps a series of online coaching calls – to support you to address MTHFR and methylation. If that is something that interests you, please send me a note to email@example.com.
For now you could also start with my 7- and 21-day DIY programs to support you in taking steps to change your health now and into the future. They are based on the concept that small changes add up to big change, and that having support can help you be successful. Each day of the program, I help you integrate CARE activities into your life: Clean Eating, Adequate Sleep, Reducing Stress and Exercising at your speed.
You can find out more about working directly with me to optimize your methylation and determining your best folate dose by booking an appointment here.
I hope you found this article useful and informative. If you know anyone else who could benefit from this information, please feel free to share this article. To make sure you don’t miss out on future articles, please subscribe to this blog. When you do, you will also receive a free e-book to help you get started with helping your body recover from stress and increasing your stress resilience.
Finally, based on reader feedback, I’m thinking of creating a group online course where you can learn about how to address adrenal health and methylation. If you think this sounds interesting, please let me know here so I can gauge the level of interest.
Yes! I’m interested in a group online course on addressing MTHFR and adrenal health!
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Wellness wishes to you,
24th August 2017
*Please keep in mind that any and all supplements—nutrients, herbs, enzymes, or other—should be used with caution. My recommendation is that you seek the care of a naturopathic doctor (with a doctorate degree from a federally-accredited program) and that you have a primary care physician or practitioner whom you can contact to help you with individual dosing and protocols. If you ever experience negative symptoms after taking a product, stop taking it immediately and contact your doctor right away.
- Bezold G, Lange M, Peter RU. Homozygous methylenetetrahydrofolate reductase C677T mutation and male infertility. N Engl J Med. 2001;344(15):1172-3.
- Pfurtscheller K, Senning B, Bernhard H, et al. Malignant stroke in an adolescent with a homozygous MTHFR 677CT mutation and intake of hormonal contraceptives. Hamostaseologie. 2009;29 Suppl 1:S84-6.
- Pezzini A, Grassi M, Iacoviello L, et al. Inherited thrombophilia and stratification of ischaemic stroke risk among users of oral contraceptives. J Neurol Neurosurg Psychiatr. 2007;78(3):271-6.
- Lenicek krleza J, Jakovljevic G, Bronic A, et al. Contraception-related deep venous thrombosis and pulmonary embolism in a 17-Year-old girl heterozygous for factor V leiden, prothrombin G20210A mutation, MTHFR C677T and homozygous for PAI-1 mutation: report of a family with multiple genetic risk factors and review of the literature. Pathophysiol Haemost Thromb. 2010;37(1):24-9.
- Laino, C. ORAL CONTRACEPTIVES MAY RAISE STROKE RISK IN PATIENTS WITH INHERITED BLOOD DISORDERS. Neurology Today: 2005;5(7): 36-7.