What is MTHFR Gene Mutation? Actionable Steps If You've Been Told You Have This

Author's Bio: Katie Bailey, MS, RD, LD, FNC

Video Transcript:

Hi everyone. Welcome back. Today's topic is all about the MTHFR gene mutation. The MTHFR mutation is actually pretty common, and it's estimated that about 50% of the population has it.

In today's blog, we're going to discuss what exactly MTHFR is and what it may mean if you have it. And lastly, what can you do for the next steps?

I'm Katie Bailey. I'm a gut health dietitian at Oswald digestive clinic, where we help individuals improve and resolve their bothersome gut issues such as gas, bloating, diarrhea, constipation, and abdominal pain. If you or someone you know is experiencing these symptoms and would like to work with our clinic, you can schedule an initial appointment with us.

You can also download our free guide for five ways to improve your Gut health if you'd like to get started right away. Okay, let's jump right into today's topic.

What is MTHFR Gene Mutation?

MTHFR stands for methylenetetrahydrofolate reductase. This is a gene that provides the body with instructions on how to create the MTHFR enzyme, and we all have two copies of the MTHFR gene, one that we inherit from our mother and one that we inherit from our father.

And we can have a mutation in one of these genes, or we can have a mutation in both of these genes. Someone who has a gene mutation in one is considered heterozygous, and if someone has a mutation in both of their genes, then they are considered homozygous.

There are 30 different MTHFR gene mutations, but there are two that are the most common and the most researched.

The first one is C677C, whose mutation is C677T, which results in a 70% decrease in enzyme activity for those who are homozygous for the mutation.

The second one is A1298A, whose mutation is A1298C, and this results in a 40% decrease in enzyme activity for those who are homozygous for this mutation.

Why is the MTHFR gene mutation enzyme important?

It's responsible for converting our dietary folate and folic acid into our active form of folate, which is five-methyltetrahydrofolate, also known as 5-MTHF. This active form of folate is a methylated form of folate, and this is important because it helps to convert an amino acid called homocysteine into another amino acid called methionine.

This Methylated folate is a critical player in the body's methylation process, and this methylation process is when methyl groups are transferred to and from different compounds. The body and a methyl group are just one carbon and three hydrogen atoms.

These compounds that are methylated are things like proteins, enzymes, and hormones, and they need to be methylated in order to function properly in the body. The methylation process is important for DNA production, the metabolism of hormones, and also for proper detoxification.

What does it mean if you have an MTHFR gene mutation?

Now that we know what MTHFR is, what does it mean if you have it? If you have the gene mutation, it will affect how your MTHFR enzyme works in the body, and then therefore, it will also affect your methylated folate levels in the body. It can lead to:

Folate deficiency - which we associate with neural tube defects and Down syndrome.
Elevated homocysteine levels - we can also see elevated homocysteine levels, and the reason for that is that we need that methylated folate in order to convert that homocysteine into methionine. Now, elevated homocysteine levels are very inflammatory in the body, and they can lead to things like heart disease and dementia, and high blood pressure.
Decrease in S-Adenosyl-Methionine (SAMe)- You may also see a decrease in SAMe, which is required in order to produce our neurotransmitters. And our neurotransmitters are things like serotonin, dopamine, and melatonin. And these things are associated with conditions like ADHD, anxiety and depression, autism, and anything really mental health related.
Poor detoxification - the last thing you may see is poor detoxification, and that's because that methylated folate is really a critical player in our detoxification pathways.

Helpful things you can do if you are showing some symptoms of MTHFR gene mutation

Having the mutation does not necessarily mean that you will have symptoms, and if you're not showing any signs of these symptoms or different conditions, then there may not need to be an intervention for you. If you are showing signs of these conditions or symptoms, then there are some helpful things that you can do.

1). Taking a Methylated Folate Supplement

The first thing that you can do is start taking a methylated folate supplement, so that's that 5-MTHF, and this will bypass that enzyme process that's not working properly due to the mutation.

And you can work with a provider who can look at your personal levels in the body and determine which doses are best for you.

Other supplements that you could take to really help support the body when you have this mutation are things like B6 and methylated b12.

2). Increase Dietary Folate

Another thing you can do is increase your dietary folate, and although this dietary folate remembered isn't methylated, so it's not in that active form overall, having an increase in folate in the diet will help the process. It's just not going to provide you with therapeutic levels because it is not methylated.

Now, high folate foods are going to be things like dark leafy greens, avocado, cruciferous vegetables like broccoli, and also beans.

3). Avoid Folic Acid

You want to make sure to avoid folic acid, which is the synthetic form of folate that's found in supplements as well as some fortified foods. And the reason for that is that our body cannot properly break it down, and it can accumulate in the body, which is not something that we want.

4). Consider N A C or Glutathione

Another thing that you could consider is N-acetyl-cysteine, which is N A C or glutathione because both of these things are great for our detoxification pathways.

5). Butane

Butane has also been shown to be beneficial because it promotes the methylation of homocysteine to methionine, which is going to help bring down those homocysteine levels.

6). Avoid Excessive Consumption of Coffee and Alcohol

And the last thing that we can do is we want to avoid excessive amounts of coffee and alcohol because these things will make our symptoms worse, but they can also increase those homocysteine levels, which we know elevated homocysteine leads to inflammation. So not good things in the body.

Now we all know we can't change our genes, but what we can do is we can influence how our genes behave, and we do that through adopting a healthy lifestyle.

Some things we can do include eating an anti-inflammatory diet, choosing a variety of colorful fruits and vegetables, choosing organic anytime we can, getting proper sleep, adequate sleep, practicing stress management, increasing our physical activity, but also just reducing our toxic exposure.

All these things could influence how our genes behave positively, but they also are just great for overall health.

All right, so that's it for today's blog. I hope you found this blog to be helpful, and if you're looking for a little bit more assistance, feel free to schedule an appointment. Thank you, and until our next meeting on this blog.

If you'd like to explore any of this information further or obtain an individualized nutrition plan, you can schedule an initial appointment at our clinic. We also take insurance and some of our clients get full coverage, which is great.