MTHFR Gene Mutation- Simply Understood

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What is the Deal with MTHFR? 

I am so excited to write the blog for you, because when I first studied the topic ten years ago, there was not a ton of UNDERSTANDABLE literature out there. I mean, I love biochemistry and pharmacology, but I had a hard time piecing all of the literature together to understand what it meant for my clients enough to explain it to them in practical terms, which is really all that matters, right? There is a good bit of information available on this topic nowadays, so I want to try to simplify a complex topic for you and help you understand why it is so important when it comes to healthy detoxification, and any chronic illness like Lyme disease!

The acronym MTHFR is short for Methylenetetrahydrofolate Reductase which is the enzyme responsible for methylation. Methylation is a process that transfers a methyl group (one carbon, 3 hydrogens) from one substance to the next to make that substance more usable by the body in metabolism. This process is one of the many pathways important to detoxification and a variety of other metabolic processes in the body. 

Methylation is critical for healthy and efficient detoxification, but it is also essential for the formation of hormones and neurotransmitters, for cholesterol metabolism, and for DNA formation in pregnancy and in cell division.  It is necessary in order to convert homocysteine to methionine and for the the production of cysteine. Methionine is required to make glutathione, and therefore important in the process of detoxification. Cysteine is critical for building proteins and repairing the body. 

Abnormal function of the methylation process can lead to problems with the way we metabolize and convert nutrients from our diet into active vitamins, minerals, and proteins your body can use. For example, methylation is necessary to convert both folate and folic acid – each a form of Vitamin B9 – into its active, usable form called 5-MTHF.

So, when a person who does not have a healthy functioning MTHFR enzymes takes over-the-counter B or folic acid supplements, their body is often completely unable to use them. Not only can they not use them, but because the body cannot convert them into a biologically active form, those supplements can cause negative effects on the body! Have you ever taken supplements that make you feel way worse instead of better?

Abnormal methylation can also create problems with new healthy DNA formation, leading to increased risk for miscarriage and complications in pregnancy. It can also affect the ability of a newborn to withstand a large degree of toxin exposure without suffering brain injury. This pathway is very important in our increasingly toxic environment. Furthermore, when methylation does not occur efficiently enough, we end up with elevated levels of  homocysteine in the body. This is attributed to significant cardiovascular issues, clotting disorders, stroke, as well as other neurological conditions.

MTHFR gene mutation

When people struggle with methylation, they likely have an issue with the number (quantity) or effectiveness (quality) of the MTHFR enzyme. This dysfunction is most often the result of an inherited gene mutation. 

Lets go over the basics of genes, gene expression and inheritance to help us better understand this concept: 

The functions and processes of our bodies are run by the information provided by the DNA in your genetic code. The genetic code and DNA is donated by our parents initially, but continues to change throughout our lives due to environmental adaptations, toxin exposure, ect. (This change in DNA and DNA expression is called epigenetic changes).

The segments of DNA that form your genes provide information, instructions and code to tell the cell to perform a specific function in the body or make specific proteins. Due to the fact that we inherit the genes from BOTH parents, we can end up with a combination of or variation in the gene mutations, depending on whether we inherit the gene mutation from one or both parents. The more variations you have of this gene, the more trouble you will have in the methylation process. It’s estimated that around 60% of women carry this some form of abnormal MTHFR gene!! 

The information we have about this gene mutation was uncovered during the completion of the Human Genome Project in 2003. In that research, it was found that there were two dominant gene mutations: C6772T and A1298C.

The also discovered that each mutation carried its own unique risks:

C6772T mutation: Linked to increased risk of elevated homocysteine levels, cardiovascular issues, strokes, migraines,  neural tube defects, and miscarriages

A1298C mutation: Linked to chronic fatigue, fibromyalgia, mental health/mood issues, schizophrenia.

Pregnancy Concerns 

Recurrent miscarriages, neural tube defects and pre-eclampsia are potentially associated with MTHFR. The Genetic and Rare Diseases Information Center says studies suggest that women who have two C677T variants are at an increased risk of having a child with a neural tube defect (like spina bifida). 

A 2006 study looked at women with a history of recurrent miscarriages and found that 59 percent of them had multiple homozygous gene mutations associated with blood clotting compared to only 10 percent of women in the control category.

Other health concerns linked with MTHFR

 A host of health concerns have been attributed to or associated with poor detoxification and elevated homocysteine levels due to MTHFR, with our children and elderly experiencing the biggest issues. Below are some of the conditions that have been studied and connected to MTHFR enzyme abnormalities:

  • ADHD
  • Addictions (alcohol and drug dependence for example)
  • Autism and other childhood learning developmental problems
  • Autoimmune disorders and thyroid disorders
  • Anxiety, Bipolar disorder, Postpartum depression
  • Alzheimer’s
  • Clotting issues: Pulmonary embolism, stroke 
  • Cholesterol issues:  including low HDL (the “good” cholesterol)
  • Chronic fatigue syndrome
  • Depression and anxiety
  • Diabetes
  • Digestive issue: irritable bowel syndrome, chronic constipation
  • Down syndrome
  • Fibromyalgia
  • Chronic pain disorders
  • Heart problems, likely related to elevated homocysteine levels
  • Hormone issues: fertility problems, miscarriages and PCOS
  • Migraines
  • Parkinson’s disease, other tremor disorders and Alzheimer’s disease
  • Schizophrenia

MTHFR and prescription drugs

When deficient in the MTHFR, we do not have enough usable folate in the body to perform necessary metabolic functions, so we desperately want to make efforts to preserve the folate that we do already have. Certain medications are known to deplete folate and can worsen issues associated with low folate. You may want to talk to your doctor is you have known MTHFR and are being prescribed any of the following medications:

  • Antacids/acid blockers
  • Antibiotics:
    • Sulfa-containing drugs (Sulfamethoxazole and trimethoprim -SEPTRA or Bactrim)
  • Anticonvulsants/Seizure meds
    • Phenytoin and carbamazepine
  • Antidepressants
  • Autoimmune drugs like Methotrexate (used for rheumatoid arthritis, psoriasis, and other autoimmune conditions)
  • Birth control pills
  • Chemotherapy treatments
  • Cholesterol-lowering drugs 
    • Niacin
    • Acid sequestrants (cholestyramine, colestipol and colesevelam)
  • Hormone replacement therapy drugs
  • High blood pressure meds
    • Sulfasalazine or triamterene (found in Dyazide)
  • Nitrous oxide (typically during dental work and in other anesthetics)
  • NSAID pain relievers
  • Metformin- commonly used for type 2 diabetes and PCOS

Testing For MTHFR

Since this is gene mutation, the tests for this are genetic evaluations and often not covered by medical insurances. If you feel that you may be struggling with methylation issues, discuss testing with your doctor. There are also plenty of at-home tests that are done with a simple cheek swab which will test for the two main mutations. Because this gene mutation is often also found together with the mutation of a few other enzyme pathways, your functional health coach may also recommend additional gene assessment testing,  so it is helpful to discuss this possibility with your provider or health coach.

The Good News

There is no cure for MTHFR since this is an inherited genetic mutation….well, that’s not the good news, but, don’t worry, there IS HOPE!

The good news is that you can manipulate how your genes are expressed. The epigenetic changes that occur in our DNA expression during our lifetime can be beneficial to our bodies and cause dysfunctional genes to be less expressed, while also augmenting the adaptive genes that we have. This is done by reducing toxic load, proper diet, exercise and proper and adequate supplementation. Our food, stress, environment and lifestyle all play a role in which genes are turned off and which genes are augmented. Giving your cells the vital minerals and nutrients they need to thrive will give you the best chance at living a life of vitality in spite of what genetics you’ve inherited.

Simple Ways to Support Your Body if You Have Methylation Issues

Since some forms of biologically inactive supplements and high levels of toxins can actually cause more stress to the body which is poorly doing the job of methylation already, there are a few things you might consider avoiding. Furthermore, consider the fact that if you have a defect of the MTHFR enzyme, your body is not clearing toxins as efficiently as others, so the body needs more time to clean up the junk it does get exposed to. Reducing the exposure to overall toxins gives your body a chance to catch up with its clean up.


All products with added or “fortified”  folic acid which is the synthetic form of vitamin B9 and is found in certain supplements, particularly prenatal supplements, breads, cereals and commercially produced flours and many processed foods.  (Fortified simply means that we originally took all the good nutrients out of the product to make them shelf stable and then replaced them with synthetic minerals/nutrients.) 

The consumption of alcohol or at least limit it to the bare minimum. If you choose to consume a bit of alcohol, most folks with MTHFR tolerate spirits that are not distilled with corn, malted grains, barley or hops. Spirits such as whiskey, gin and some brands of vodka are often distilled from corn, barley or wheat, while rum, brandy, tequila and other forms of vodka are distilled from more tolerable things such as molasses, beets, fruit. Spirits are generally tolerated better over wine or beer.

Toxins like chemical house cleaners (bleach or other harsh chemicals can inhibit methylation and negatively affect the epigenetic changes to your DNA).


Overall exposure to toxins. Ideas for this include using clean cleaning products, washing detergents, beauty products and skincare products. These are the top areas of household and personal items that contain hidden toxins. 

The amount of inflammatory foods in your diet. Common offenders include refined sugars, syrups (think about your venti, yada yada coffee), sweeteners, artificial sugar replacements,  as well as nightshades (tomatoes, eggplants, peppers, goji berries).

Fried foods

Milk and dairy products. Due to the fact that people with MTHFR gene mutation do not detoxify well, gut permeability is often disrupted and the individual is at high risk for “leaky gut.” Leaky gut increases the risk for a host of autoimmune issues as well as the development of a variety of food allergies. Since dairy is high in sugar (particularly low fat milk) and often heavily contaminated with pesticide from the grain feed and antibiotics given to the cows, reducing this helps to improve gut inflammation. When choosing an alternative, consider goat or sheep milk and go for the full fat milk options!


Wholefood green leafy vegetables which are high in natural folate, (the raw form is best):

  • asparagus
  • lettuce
  • kale
  • broccoli
  • spinach
  • brussels sprouts
  • avocados
  • lettuce 
  • lentils

Proteins from organic sources of eggs, bone broth or wild caught fish, flax seeds, chia seeds, ect. A green smoothie (not juice- see binder blog) is a great way to start the day and incorporate natural, absorbable forms of folate into your diet. 

Sleep. Make this a priority. I know this is easier said than done when you are dealing with issues of detox. People often find as they improve their natural detoxification pathways, their sleep improves, but at the same time, as we increase sleep, detoxification also improves. Consider making efforts to naturally improve sleep patterns as much as possible. 

  • Make sure your room is fully dark and cool.
  • Consider diffusing calming essential oils like Lavender, Cedarwood, Spikenard
  • Stick to a regular bedtime
  • Stay off electronics right before bed, consider reading a book instead (yes, the paper kind).

Other helpful habits to improve methylation: 

Be sure to get out in nature, breathe fresh air, get plenty of sunshine, preferably on non-sunblocked skin. 

Move, sweat and exercise. This helps body detox using sweat, which may be your primary source of detoxification in MTHFR. 

Use other forms of gentle detox: epsom salt/fulvic acid baths.

Take appropriate binders as a daily supplement. 

Manage stress: exercise, spend time in the Word of God, find time to be quiet. High periods of stress reduce our ability to detoxify the body because it forces the body into the fight or flight system. When the sympathetic nervous system (fight of flight) dominates, then the body shuts down digestive, detox and other resting processes.

Address gut health. Repairing leaky gut and optimizing the gut flora should be one of the first steps in correcting a methylation deficiency, and that includes treating yeast infections such as candida because of the toxins it releases, inhibiting proper methylation. Fulvic acid has been shown to work wonders in this department.

Become the chief investigator of your own body and how it responds to different things. For example, keeping a daily food diary of what you eat and when along with any symptoms or reactions you have from those foods, is super helpful. (It is also very helpful for your trusted health consultant or practitioner who is aiding you in your health goals!) Tracking your diet for a few weeks consistently is an eye opener and allows you to more clearly identify trends between what you eat and the common symptoms you experience.

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