Dr. Jill Carnahan, MD

MTHFR Gene Mutation: How to Know If You Have It and What to Do



What do chronic migraines, irritable bowel syndrome, and autism all have in common? All of these conditions can be caused by a faulty enzyme called MTHFR. While it may look like an abbreviation for a curse word, MTHFR actually stands for methylenetetrahydrofolate reductase. This little enzyme plays a very important role in the body. 

MTHFR is essential for a process called methylation which plays a role in processing, metabolizing, and converting certain nutrients into active compounds that can be effectively used by the body.1 

But if you have a genetic mutation in the gene that tells your body how to make MTHFR, it can cause trouble for your health. Luckily, you are not entirely at the mercy of your genetics, and there are some simple steps you can take to manage this mutation.

What is Methylation? And Why is it Important?

To understand how to manage an MTHFR gene mutation, you must first understand methylation. Methylation is a core process that occurs in all cells to help your body make biochemical conversions. 

In simplest terms, methylation is the act of a single carbon atom and three hydrogen atoms (this is called a methyl group) attaching to another molecule. Conversely, when a methyl group is removed from a molecule, it is called demethylation. 

When a methyl group is added or removed, it triggers the molecule to perform a specific action. Think of it as lots of tiny on and off switches in your body that control everything from your brain chemistry to your immune system. Methylation is a big deal—every cell in your body uses it and it impacts nearly every bodily function. 

 The methylation process plays a major role in:2

One particularly important role of methylation is to methylate or activate your B vitamins. B vitamins must be converted into their active form to be used properly by our bodies. If inactivated forms of B vitamins are consumed and the body is unable to convert them, they are unable to perform their key functions in the body. This creates a deficiency and can even become toxic. 

What is an MTHFR Gene Mutation?

Your genes are like the instruction manual your body follows to perform every single biochemical function. And the role of the MTHFR gene is solely to instruct the body on how to produce the MTHFR enzyme. When your MTHFR gene is mutated, it sends out faulty instructions resulting in inadequate production of the MTHFR enzyme. 

It is estimated that up to 40% of the population has an MTHFR gene mutation. But the effects of this mutation can vary greatly depending on the type of mutation a person has. There are numerous possibilities when it comes to MTHFR gene mutations, and science is still working to understand them all. 

The reason there is so much variation in MTHFR gene mutation is because our parents pass on two sets of genes. So if both parents pass on a healthy gene, you won’t have any mutation at all. If one parent has a healthy gene and the other passes on a mutation, several variations of the mutated gene can show up. And if both parents pass on mutated genes, it can create a number of genetic issues. 

The two most problematic and most studied mutations are known as C677T and A1298C, which refers to the placement of the mutation on the gene. The most common MTHFR gene mutations involve combinations of these two genes that are passed on from each parent:

While there are other more advanced and rarer mutations, as well as other factors that affect gene expression and methylation, these two mutations are the most common. Depending on the type of mutation and how that mutation is expressed, methylation and enzyme efficiency can vary greatly. Some individuals’ enzymes levels may only drop 10% where symptoms may not even be noticed, while others may experience severe MTHFR mutation symptoms when their levels drop as much as 90%. 

What are the Signs and Symptoms of MTHFR Gene Mutation?

The type of symptoms and severity of an MTHFR gene mutation are heavily influenced by the type of mutation a person has, as well as by how much the body’s ability to carry out methylation and make MTHFR enzymes is impacted. The less MTHFR your body is able to produce, the more severe the MTHFR symptoms are likely to be. Some conditions that have been linked to MTHFR gene mutation include:3,4

How Do I Know If I Have an MTHFR Gene Mutation?

While an MTHFR gene mutation can manifest in a number of different ways, the only way to know for sure if you have the mutation is to verify your genes through a blood or saliva test. If you are concerned that you may have an MTHFR gene mutation, there are a couple of options when it comes to genetic testing.

Ask Your Doctor: 

You may be able to ask your physician to order an MTHFR gene mutation testing through True Health Labs. It is important to keep in mind that not all doctors are well-versed in MTHFR issues. For this reason, it may be a good idea to seek out a functional medicine practitioner or another healthcare professional that has experience treating patients with MTHFR gene mutations.


23andMe is a genomics and biotechnology company on a mission to revolutionize health, wellness, and research. Through 23andMe, you can order a genetic profile directly without a physician order online for only $99. We’ve come a long way in genetic testing, making it more accessible to many people. 

It is important to note that 23andMe’s genetic profile will give you all of the raw data you need to identify an MTHFR gene mutation, but they no longer offer health-related genetic reports. You can take this “raw data” and run it through a program that will interpret it for you, such as:

Natural MTHFR Treatments and Diet

Avoid Drugs That Deplete or Block Absorption of Folate or B-12:

Because one of MTHFR’s most important roles is to convert B vitamins into their active usable form, medications that impede the absorption of B vitamins can exacerbate MTHFR gene mutation. Avoid some medications that have been found to worsen MTHFR gene mutation by either depleting or blocking absorption of certain B vitamins, such as folate and vitamin B-12, include:5 

1. Avoid Taking Things With Folic Acid

Folic acid is the inactivated form of folate (one of the B vitamins). In order to be converted into an active usable form by the body, it must undergo methylation. Ingesting high levels of folic acid can be toxic for those with MTHFR gene mutation. 

2. Avoid Eating Processed Foods

Many processed foods contain added synthetic folic acid that the body cannot process properly.

3. Load up on Leafy Greens

Leafy greens, such as spinach, kale, swiss chard or arugula, are loaded with natural methylated forms of folate that your body can more easily process.

4. Avoid Exposure to Environmental Toxins

Minimizing your toxic load is important since MTHFR gene mutation hinders your body’s ability to detox. It is impossible to entirely avoid toxins, but some ways to minimize exposure include:

5. Eat Grass-Fed and Organic Animal Products

The quality and nutritional profile of meat and other animal products drastically change depending on the diet of the animal. Toxins that animals are exposed to can be passed onto you when they end up on your dinner plate. Opt for grass-fed and organic options when possible.

6. Take Your Vitamins

Since an MTHFR gene mutation hinders your body’s ability to properly convert essential nutrients, taking high-quality supplements can help counteract these effects. A good place to start is by taking the following  MTHFR supplements: 

It’s important to note that if you are double homozygous for MTHFR mutations, you should proceed very cautiously with methyl B12 and L-methylfolate supplementation as some people do not tolerate high doses. A good rule of thumb is to Introduce nutrients one by one and watch for any adverse reactions. Use extreme caution when supplementing with niacin, which can dampen methylation.

7. Take Time to Detox

Since an MTHFR gene mutation impairs your body’s ability to get rid of toxins, support your body in this process by incorporating gentle detox regimens several times per week. This could include:

8. Focus on Gut Health

When your body’s ability to use certain nutrients is impaired, it is especially important to focus on gut health so your body can absorb the nutrients from food as effectively as possible. For digestive support, click here to learn more about my histamine blocker. 

9. Share the Information with Family

If you have a known genetic mutation, share the information with parents, children, and other family members and encourage them to be tested too!  The easiest way is to order through 23andMe for only $99 online. 

Next Steps If You Have MTHFR Gene Mutation Symptoms

It is important to remember that having an MTHFR gene mutation does not necessarily cause disease, but it does make you more susceptible because it impedes your body’s ability to function properly. This is excellent news because it means YOU have the power to influence your own health.

If you have tested positive for an MTHFR gene mutation, it is vital to be proactive and take steps to minimize its impact, and the tips outlined in this article are a good place to start. From air purifiers to grass-fed beef delivered straight to your door, we’ve rounded up our favorite products and companies that can help you follow these tips and manage your MTHFR gene mutation. Check out the products we recommend here.

It’s also important to note that MTHFR gene mutation is a complex and very individualized condition. Working with a practitioner well-versed in treating patients with MTHFR gene mutations can help you navigate these complexities and develop a personalized plan of care. 

Here is some additional reading I recommend if you’ve been diagnosed with MTHFR gene mutation:

Is Undermethylation Keeping You Down? What You Can Do

How to Choose a Good Integrative and Functional Medicine Doctor

What is Your Total Toxic Burden? How To Reduce It For Better Health

4 Detox Methods That Actually Work

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  1. https://ghr.nlm.nih.gov/gene/MTHFR
  2. https://www.ncbi.nlm.nih.gov/books/NBK66131/
  3. https://www.ncbi.nlm.nih.gov/pubmed/25449138
  4. http://mthfr.net/mthfr-mutations-and-the-conditions-they-cause/2011/09/07/
  5. https://livermedic.com/mthfr-what-to-avoid/

* These statements have not been evaluated by the Food and Drug Administration. The product mentioned in this article are not intended to diagnose, treat, cure, or prevent any disease.   The information in this article is not intended to replace any recommendations or relationship with your physician.  Please review references sited at end of article for scientific support of any claims made.