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What is an MTHFR Gene Mutation and How to Get Tested


The methylenetetrahydrofolate reductase gene (MTHFR) has been in the spotlight for the past several years.

This common mutation, which causes MTHFR deficiency, can put you at a higher risk for several health conditions including coronary artery disease, depression, anxiety, and liver disease.

But it’s important to understand that genes are not destiny, and there’s a lot you can do to support your body with diet and lifestyle if you have this mutation.

MTHFR may present with a few different genetic variants, so understanding which variant is affecting you is crucial if you’re ready to work with your genetic blueprint.

Let’s take a closer look at this genetic mutation and explore some diet and lifestyle options that can promote a healthier you if you have an MTHFR deficiency.

What is MTHFR?

MTHFR stands for methylenetetrahydrofolate reductase — and yes, it’s a mouthful. The MTHFR gene mutation has been getting a lot of attention as scientists are learning more about genetics and how these deviations can affect your overall health.

Statistics vary, but it seems that anywhere from 10-40% of people may have this genetic mutation[*].

Symptoms of An MTHFR Mutation

As you can see, MTHFR is responsible for a myriad of downstream compounds and processes that are essential for optimal health.

Whether it’s due to low methionine, high homocysteine, or decreased methylation, the MTHFR mutation can cause a wide range of symptoms and risk factors including[*]:

  • Depression
  • Anxiety
  • Blood clots
  • High blood pressure
  • Glaucoma
  • Stroke
  • Heart disease
  • Certain types of cancer
  • Cleft palate (a congenital disability)
  • Neural tube defects

Genetics In Brief

Before jumping into what this gene does and how it may affect your well-being, let’s take a brief dive into genetics to lay some groundwork.

Your DNA, genes, and chromosomes form the blueprint of what makes you, you. Let’s build up from the basics.

It all starts with your DNA, which is the primary hereditary material in your body. DNA contains information which codes for the building blocks that make up your structure and function.

Your genes are long snippets of DNA. And DNA gathers in a specific way to create the traits that are passed on to you from your parents.

Your chromosomes are made up of your genes, as well as long strands of DNA and proteins called histones. The primary purpose of a chromosome is to keep your DNA wound tightly and in place so that it can be accurately copied during cell division[*]

Each species has their own set number of chromosomes; humans have 23 pairs of chromosomes — a total of 46 in almost every cell in the body.

Zooming out a bit, chromosomes hold your genes in place, and your genes are made up of DNA in a particular order that’s specific to you.

This is happening inside every cell of your body, with the exception of red blood cells.

The MTHFR Gene

The MTHFR gene tells your body how to create an enzyme that’s also called MTHFR (Methylenetetrahydrofolate reductase). Scientists like to keep things pretty straightforward.

This enzyme is essential for a process that converts the amino acid homocysteine into another amino acid, called methionine. MTHFR’s role in this process involves folate metabolism, specifically the conversion of folate (vitamin B9) into its active form in your body.

Active folate is then involved in the methylation process. Think of methylation as turning a switch on and off. In this particular case, methylation is turning homocysteine into methionine[*].

The problem is, DNA codes that make up genes can vary (aka, form abnormally, aka mutate). When this happens, the part of the DNA sequence that is abnormal is called a “variant.”

When a gene has a variant, it means the gene will make proteins that aren’t going to function the way they should.

In the case of MTHFR, this means you may not be able to convert homocysteine into other downstream compounds properly. This results in elevated homocysteine levels and lower levels of compounds that need homocysteine as a precursor[*].

Health Concerns Related To MTHFR

Some of the common health issues that can present when you have an MTHFR variant are:

Depression and Anxiety

The neurotransmitters serotonin, epinephrine, and dopamine all need methylated folate to synthesize.

But when your MTHFR enzyme isn’t working correctly, you aren’t able to methylate folate properly, leading to decreased levels of these crucial neurotransmitters[*].

Serotonin and dopamine have been researched for their role depression and anxiety, with a wealth of studies suggesting that low levels may contribute to these psychological disorders[*][*][*][*].

Liver Health

When you have a normally functioning MTHFR enzyme, homocysteine converts to methionine, and then methionine converts to another compound — SAMe (S-adenosylmethionine).

You generate SAMe mostly in your liver and it plays an essential role in helping your liver detoxify[*]. With low levels of SAMe, your liver may not be able to function optimally.

Blood Vessel Damage And Blood Clots

When you can’t convert homocysteine to other downstream compounds, homocysteine can build up in your bloodstream. And too much homocysteine in your blood has been associated with blood clots and blood vessel damage.

However, researchers are still trying to determine if it is the homocysteine itself that can damage your blood vessels, or if homocysteine is a byproduct of this process[*].

Heart Disease

Elevated homocysteine levels are also associated with heart disease. High homocysteine can contribute to atherogenic plaques, one of the first steps in heart disease progression[*].

People with elevated homocysteine have twice the risk of developing heart disease as those with normal levels.

Alzheimer’s Disease

High homocysteine may damage the blood vessels in your brain and is even linked to the progression of Alzheimer’s disease[*].

How to Test for An MTHFR Mutation

The best way to test for the MTHFR mutation is to do a genetic test. There are a few different companies out there offering genetic testing, and if you want to do it without a prescription from your doctor, you can go through 23andme to get your results directly.

If you choose this option, you’ll want to have a service that can translate your results for you. Companies like GeneticGenie and LiveWello can look at your results and then send you a report based on what 23andme sends you.

If you find that you do have any variants in your MTHFR genes than it’s advised to work with a doctor that can guide you. Different types of variants can show up in different ways, so finding the course of action that best suits your needs is always important.

6 Natural Tips for MTHFR Mutations

All is not lost if you test positive for the MTHFR mutation. Here are some natural steps to take to manage symptoms and lessen your risk of heart disease and other symptoms.

#1: Get More Folate

Since high homocysteine has been correlated to a higher risk of heart disease, anxiety, depression, and other potential health risks, it’s best to keep homocysteine levels low[*].

You can increase your folate intake by either eating more folate rich foods, or taking folate supplements. However, research shows that folate from foods is not as bioavailable as it is in the supplement form (specifically methylated folate supplements– 5MTHF)[*].

Getting more folate in your diet can’t hurt either, here are some of the best natural sources of folate:

  • Broccoli
  • Asparagus
  • Romaine
  • Eggs
  • Beets
  • Brussels sprouts
  • Nut and seeds

#2: Manage Your Mental Health

An MTHFR mutation can cause anxiety and depression due to decreased neurotransmitter synthesis[*]. If you struggle with anxiety or depression, there are several lifestyle factors you can adopt to help manage your mental health.

Physical activity is an excellent way to manage your emotions. Several studies have shown that movement can help alleviate symptoms of depression. This is especially true if you combine exercise with other health-promoting lifestyle changes[*][*].

Meditation is another great tool that can help relieve symptoms of anxiety and depression. Practicing daily meditation, even just a few minutes a day, may ease stress and enhance general health.

Mindfulness meditation, where you aim to stay in the present moment, may have specific mental health benefits[*][*].

#3: Support Your Liver

Since SAMe plays an essential role in helping your liver do its job, you’ll want to give you liver some extra love if you have an MTHFR mutation.

Ways to support your liver include:

  • Drinking plenty of filtered water to help your body release toxins
  • Exercise and saunas to support detox through your skin (this takes some of the pressure off your liver)
  • Consume antioxidant-rich foods like green leafy vegetables, berries, and green tea to enhance your defenses[*][*]
  • Eat more cruciferous vegetables like broccoli, cauliflower, and Brussels sprouts to support liver detoxification[*][*]
  • Take bitter herbs like turmeric and goldenseal rich in the compound berberine, to support liver function[*]

#4: Reduce Alcohol Intake

Alcohol isn’t all bad, but it is pretty hard on your liver.

For those with MTHFR, alcohol can cause further disruptions in the methylation process, which is a cornerstone of MTHFR symptoms. Alcohol also may decrease SAMe activity. This could compound the effects of an MTHFR mutation, potentially making symptoms worse[*].

#5: Protect Your Heart

Heart disease is the leading cause of death worldwide, and in the U.S. one in every four deaths is said to be caused by cardiovascular disease[*].

Whether you have an MTHFR mutation or not, protecting your heart with healthy lifestyle choices should be top of mind. However, high homocysteine levels from an MTHFR mutation could raise your risk of heart disease.

Focus on keeping your inflammation down and blood lipids like triglycerides low to keep your heart beating strong.

Keeping blood glucose and insulin levels low help battle inflammation and keep heart markers at an optimal range. Fiber-rich foods may help protect your heart and there are plenty of veggies that are also low in net carbs if you’re keto. Make sure to include lots of fibrous vegetables like spinach, broccoli, brussels sprouts, and cauliflower to your diet[*].

Also include high-quality protein sources like fish, rich in omega-3 fatty acids, which may boost heart health and are known for keeping inflammation at bay[*].

#6: Check Your Medications

Some medication can further disrupt the methylation processes, making symptoms much worse. These medications include[*]:

Antacid medication: Common over the counter (OTC) medications like Zantac and Prilosec may hinder your ability to absorb nutrients. Without crucial nutrients, your body has an even harder time with the methylation process.

Cholesterol-binding drugs: These medications can decrease the absorption of folate, vitamin B12 and other nutrients that are essential for methylation.

Niacin: While this B vitamin can have positive effects in appropriate doses, too much niacin (vitamin B3), can reduce SAMe, which is necessary for detox, neurotransmitters, and more.

Estrogen: Birth control pills may rob your body of folate and other micronutrients that can disrupt the conversion of homocysteine to methionine.

Anti-seizure drugs: Some anti-seizure drugs work by reducing your folate levels. This is a tricky one, so if you are taking anti-seizure drugs, be sure to speak with your health care provider about how to proceed if you also have an MTHFR mutation.

Metformin: Metformin is an anti-diabetic drug that can deplete your body of vitamin B12, which is a necessary component of the methylation process.

If you an MTHFR mutation and have diabetes or pre-diabetes, you’ll want to discuss the best protocol with your physician.

Obviously, you shouldn’t stop taking any medication without consulting your doctor first.

How Keto Might Help

While you don’t get an MTHFR deficiency from your diet, there are diet and lifestyle factors that can help you manage this gene variant.

A keto diet can help lessen inflammation, boost heart health, and balance blood sugar — all of which is necessary with an MTHFR mutation.

Here are some other ways a ketogenic diet may help:

#1 Heart Protective

Ketones, especially beta-hydroxybutyrate (BHB), are anti-inflammatory and may help prevent heart disease[*].

#2 Lots Of Folate Options

A healthy ketogenic diet includes tons of high-folate vegetables like broccoli, Brussels sprouts, and green leafy vegetables. Foods naturally rich in folate will help you maintain healthy levels of homocysteine[*].

#3 Makes It Easy To Eat Clean

The keto diet has very little room for processed carbs and alcohol. By keeping your diet clean with vegetables, organic meats, and a variety of high-quality fat sources, you’ll take a load off your liver[*][*].

#4 May Help With Depression

There is more and more research that supports the inflammatory model of depression, which connects systemic inflammation with brain health and depression[*][*].

The MTHFR gene mutation may present as depression or anxiety depending on which variant you have. In addition to lifestyle changes like exercise and meditation, diet choices can also impact your mental health.

The ketogenic diet may be a great option to help you deal with anxiety and depression because it is anti-inflammatory, neuroprotective, and helps you avoid foods that may throw you off balance like sugar and processed grains[*].

The Takeaway: MTHFR isn’t a Life Sentence

Although MTHFR may sound scary, there’s nothing to fear about this common genetic mutation.

Lifestyle and diet can make a world of difference if you know what to do and why. Staying active, eating the right foods, and avoiding pitfalls like drinking too much alcohol are essential.

The ketogenic diet offers many health benefits that align with an MTHFR protocol, but be sure to talk to your doctor for medical advice before starting any new diets, activities, or supplements.


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