MTHFR: Why Is This Gene Important?

Written by Lewis Cuthbertson, PhD | Last updated:

The MTHFR gene is important for every bodily function. If your MTHFR gene is sub-optimal, you may be at an increased risk of developing certain diseases. Read on to find out how you can identify if you’re at risk and what you can do to counteract this.

What is MTHFR?

The MTHFR gene is responsible for making an enzyme known as methylenetetrahydrofolate reductase or MTHFR. This enzyme converts dietary folate into active folate (the type our body can use). Active folate is used by our bodies for a process called methylation. Methylation is important for every bodily function and the creation of DNA.

MTHFR mutation symptoms

The two most common MTHFR gene mutations are C677T and A1298C. There are no specific MTHFR symptoms associated with carrying one of these variants, however, they have been associated with numerous conditions including:

  • Heart disease
  • Dementia
  • Rheumatoid Arthritis
  • Cancer

The list of conditions which are associated with poorly functioning MTHFR genes is quite long. If you suffer from any of these conditions, it’s always recommended that you consult with your healthcare provider to discuss your options.

But just because your genes make it more likely that you experience a certain health condition, it doesn’t mean there’s nothing you can do about it. Understanting your DNA can help guide you when it comes to your health.

Let’s look at MTHFR and heart health. Certain variants have been associated with poor heart vessel health. But depending on which variant you carry, implementing a Mediterranean diet may help prevent fat from clogging up blood vessels, improving your heart health.

How to know if you have an MTHFR mutation

If you carry a sub-optimal variant of this gene, this leads to a buildup of homocysteine alongside a deficiency in folate and vitamin B12. These factors are thought to contribute to the conditions associated with these troublesome variants.

The best way to identify whether you carry a problematic MTHFR gene mutation is by having your genes tested using a service such as SelfDecode. SelfDecode analyzes up to 83 million genetic variants and provides you with genetic risk scores for various health topics, like heart health, joint pain, and 20+ others. Not only that, but SelfDecode gives personalized and prioritized diet, lifestyle, and supplement recommendations to help you counteract the negative effects of your genes.

Beyond genetic testing, you may also wish to get lab tests done to check both your homocysteine, folate and vitamin B12 levels, as high levels of homocysteine or low levels of folate and vitamin B12 are indicative of how well your MTHFR gene is functioning. You can upload your results to a service like SelfDecode Labs to get insights into how to get your levels to their optimal range.

Supplements for MTHFR mutation

If you carry an MTHFR mutation, or your blood tests show that you have high homocysteine or low folate, then you may wish to supplement with natural folate (5-MTHF) or vitamin B12. Naturally-occurring folate is already in a form that is usable by your body, and has been shown to improve folate deficiency.

Synthetic folic acid on the other hand should be avoided as if you have low MTHFR activity your body will not be able to convert this synthetic folate into the form your body requires.

MTHFR diet tips

If you have a poorly functioning MTHFR gene there are also some tweaks you can make to your diet to reduce the gene’s impact. Here we’ll present some general diet tips, but you should find out what works for you based on your DNA if you want to optimize your health.


The first thing you need to do is focus on getting an adequate amount of folate in your diet, as with a poorly functioning MTHFR gene you’re already at an increased risk of folate deficiency. The recommended daily folate intake is 400 micrograms for adults and 600 micrograms for pregnant women. Folate is found in most fresh fruits and vegetables, including:

  • Spinach
  • Asparagus
  • Lettuce
  • Avocado
  • Broccoli
  • Bananas

It’s also worth bearing in mind that the cooking process can eliminate as much as 90% of the folate in foods, so it’s best to eat folate raw from plant sources as much as possible.

Vitamin B12

Similar to folate as mentioned, an MTHFR mutation increases your risk of a vitamin B12 deficiency, so it’s important to get sufficient vitamin B12 from your diet.

Vitamin B12 is found mostly in animal products such as:

  • Beef liver
  • Fish and other seafood
  • Dairy products

Plant-based foods generally do not contain vitamin B12, so if you follow a vegan diet you should take vitamin B12 supplements or eat foods which are fortified with the vitamin such as breakfast cereals.


The MTHFR gene is vital to all bodily functions, and as a result if you carry a poorly functioning MTHFR variant, you may be at an increased risk of numerous health conditions. However, if you can identify whether you carry one of these variants, there are actions you can take to mitigate this risk such as increasing your dietary intake of folate and vitamin B12 or supplementing.

Depending on which MTHFR gene variant you carry, certain wellness strategies may work best for you than others. The fastest and best way to identify whether you may be at risk is by utilizing services such as SelfDecode, which provides personalized recommendations to optimize your health based on your DNA.

With SelfDecode, you’ll also have access to Lab Test Analyzer, where you can upload your lab test results to keep an eye on your homocysteine, folate and vitamin B12 levels and receive insights on how to get them to their optimal range.


About the Author

Lewis Cuthbertson

Lewis completed his PhD in Molecular Microbiology at Northumbria University (UK). Lewis spent several years researching the biodiversity of bacterial communities in the Arctic and Antarctic, whilst also performing research for a DNA sequencing service, where he was involved in several health based microbiome studies. This gave him an insight into how the highly diverse and invisible to the naked eye portion of human health, can potentially impact an individual’s quality of life, driving his desire to help others understand their own complex health needs through the most current scientific research.


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