What is MTHFR? MTHFR Mutation Explained

Hello everyone today, we're going to be talking about a common gene mutation called MTHFR. Recent breakthroughs in genetic testing have really opened up the door for us in our nutrition practice as dieticians. And I'm super excited to talk about this one with you all.


The MTHFR mutation is actually really common about 50% of the population has it. So there's a good chance that you also have it. I personally have a double mutation or is a homozygous mutation, which we'll get to in a minute.


So this topic is super interesting to me and I can't wait to share everything that I've learned about it with you. In this video, we're going to talk about what the MTHFR mutation is exactly. It's more than a jumble of letters.


We're going to talk about the consequences of having this mutation. And lastly, actionable steps that you can take if you have this gene mutation. Hello everyone.


My name is Katie Krejci and I am a gut health dietitian at Oswald Digestive Clinic, where we help people improve and eliminate bothersome gut issues like gas and bloat, diarrhea, and more. You can schedule an initial appointment on our website or download our free guide about five ways to improve gut health. All right, so let's jump into it.


What is MTHFR?

So what is MTHFR exactly? And what does it do? So MTHFR is short for methylene tetrahydrofolate reductase. I know it's a mouthful, otherwise known as MTHFR and it's a gene. So I like to think of genes as little mini instructions for ourselves to tell them what they need to be doing.


And the way genetics work is, that all of us have two copies of all of our genes. So we get one from mom and one from dad and each of these two copies can either be a wild copy, which is the good copy, or a mutant copy, which has the gene mutation one.


So if you happen to have one mutant copy, that means your heterozygous. If you have two mutant copies, then that means you're homozygous. And again, this and these MTHFR mutations are very common. About 50% of the population has it. So there's a good chance that you also have it. Okay.


So what exactly is the MTHFR gene?


So the MTHFR gene basically tells our body how to create the MTHFR enzyme. And this enzyme is involved in a process called methylation, which is basically just transferring a methyl group from one compound to another. And a methyl is simply one carbon in three hydrogen atoms.


It sounds simple, but it is really, really important. Methylation is a very prominent reaction that's needed for over 400 biochemical processes in our body involving anything from detoxification to repairing our DNA and even turning other genes off and on.


So definitely an important reaction happening in our body. So in this case, the MTHFR enzyme is needed to methylate folic acid, which we get in our food into methylated folate. And this methylated folate is the active form of folate in our body.


And this is essential for converting a compound called homocysteine into methionine for proper neurotransmitter synthesis. And you guys guessed it you're totally right on track. So our neuro-transmitters are things like dopamine and serotonin. So having an MTHFR mutation can certainly impact our mental health.


Now you might be surprised to learn that there are actually 30 different types of MTHFR gene mutations, but really there are just two that are the most well studied and known about. So I want to talk about those.

C677C whose mutation is C677T

The first is called C677C whose mutation is C677T. And this can result in up to a 70% reduction in that enzyme activity. If you have a double gene mutation there.


A1298A whose mutation is called A1298C

Now the second one is called A1298A whose mutation is called A1298C. And this one's not quite as big, but it can still result in a 40% reduction in enzyme activity if you're homozygous for that.


Now you can have one or even both of these types of mutations. And when you have both is called a compound mutation, so they can have an additive effect on your enzyme activity.


So what's the bottom line?

So if you have that mutation and the MTHFR gene, it just means that your MTHFR enzyme might not work as well for you. And you might just not be able to keep up with your methylated folate levels. You might be able to convert some but not enough.


So why is insufficient methylated folate such a big deal?

Besides the obvious folate deficiency, homocysteine levels can actually start to rise to harmful levels in our blood. And this is because homocysteine requires methylated folate to convert it into methionine and so if this isn't happening, we end up with these homocysteine levels building up, and homocysteine levels when they're high, it can be really inflammatory. So it's associated with things like high cholesterol, heart disease, stroke, high blood pressure, even dementia and fibromyalgia, body pain, you name it.


And the other thing that can happen is we end up with low SAMe levels, which is a methyl donor. That's very much involved in neurotransmitter production. So things like serotonin, dopamine, and that wonderful sleep hormone melatonin. So we can start to see things like ADHD, autism, and even addictions and depression popping up.

And lastly, sleep issues too. Folate deficiency can also occur. So of course that makes us think about things like neural tube disorders, down syndrome, congenital heart disease, cleft palate, and overall just poor detoxification cause methyl folate plays a key player in those detoxification pathways.


Lastly, we can see things like auto-immune disease, cancer, chronic fatigue, migraines, and even infertility. So I know that seems a lot like a lot don't panic. I want you guys to know that our genes are not our destiny.


They may just put us on a path, but there are a lot of things that we can do to determine where that path ends. All right. We've made it to the fun stuff. So what should we do about all of this, first I want to preface this, this is not medical advice because I don't know your unique medical history.


So please take this all with a grain of salt. So if some of these symptoms or diseases seem consistent with your health picture, or maybe a family history of these things, it's a good idea to start by testing yourself for this gene mutation via a simple blood test. And we can actually run this test at our clinic.


So definitely schedule an appointment with us if you'd like us to help you out with that. However, I wish it was just that simple, just knowing whether you have the MTHFR mutation or not isn't necessarily enough because genes can actually be silenced or turned off by environmental and dietary factors. So it's very possible that if you have the MTHFR gene mutation, you might have minimal symptoms and a normal homocysteine level.


And normal folate levels, and methyl folate levels. So if this is your case, we don't necessarily want to intervene because this could result in too much-methylated folate which can drop your homocysteine levels to too low. And remember how we need those homocysteine compounds to then make our neurotransmitters.


You guessed it. So if we don't have enough homocysteine, we're not going to be able to make enough of those neurotransmitters. And something else that's really interesting is there was a study in 2014 that found that high serum folate levels can actually be correlated to a higher incidence of colorectal cancer.


So we definitely don't want that either. So that's why really taking an in-depth look at your whole health picture is so important. So on the other hand, if you have this MTHFR mutation and you're showing a need for intervention, based on your functional biomarkers. So things like your homocysteine levels and micronutrient levels, there are some key interventions that you can do to help get your body back into balance.


Key interventions that you can do to help get your body back into balance


Adding a methylated folate supplement

So the first thing is adding a methylated folate supplement. So again, that's the active form of folate that we're going to be using. And this is called 5-MTHF. And by providing this methylated folate, we're bypassing this enzymatic step that isn't happening effectively in our body because of that MTHFR mutation, and a general starting point would be one milligram and just monitoring your response.


Work with a provider

But of course, my favorite is if you're working with a provider, which I highly recommend, they may recommend a more therapeutic dose based on your personal blood work and your medical history. And of course, With their supervision.


Now there are a few other things that we can do as well.

  • The first is ensuring that we're having optimal levels of other nutrients, like choline, vitamin B6, and methylated B12 also known as methylcobalamin.

  • Another thing is eating folate-rich foods. That's definitely the safest route to go. There's really no risk there. So these types of foods would be asparagus, avocado, cruciferous vegetables, and things like broccoli and kale leafy greens, and beans.


Now, food folate isn't methylated. That's something that has to happen in our bodies. So it may not provide therapeutic levels, but it certainly can help the whole situation.


On that same topic, we really want to make sure that we're avoiding folic acid, which is the synthetic form that you're going to find in fortified foods and supplements. Your body won't be able to process this form properly and it can start to build up in your body in a negative way.


Another pair of supplements to consider are NAC or N-Acetyl Cysteine and glutathione, they really help the liver in its detoxification pathways. That may be bogged down a little bit because of the MTHFR gene mutation. Lastly, betaine is another compound that can really help regenerate that methionine level from homocysteine.


Avoid excessive coffee intake

One other thing to try to avoid are things like excessive coffee intake. I know we all love our coffee. But that, and alcohol intake can increase homocysteine levels.


And again, homocysteine can be very inflammatory. Unfortunately, we can't change the genes that we've been given, but we can apply something called epigenetics, which is influencing how our genes behave. So our genes only determine about 30 to 50% of our health outcomes.


Our genes are not our destiny, so don't worry. And there are a lot of things we can do to silence these genes with healthy habits. So the first is consuming an anti-inflammatory diet and even considering things like going gluten-free.


So buying organic as much as possible, and eating lots of good fruits and vegetables, all of those are going to help you out. Next, is stress management. Easier said than done, I know, but it makes a big difference.


Getting good sleep, getting good activity throughout the day, maintaining a healthy weight, and limiting any toxin exposures. All of those things are going to beneficially impact our health and how our genes behave.


I hope this information was helpful to you if you'd like to explore any of this information further or pursue some testing for MTHFR, homocysteine, or micronutrient levels, definitely get in touch with us at Oswald Digestive Clinic. You can book your initial appointment by clicking on the link below. We do take insurance and some of our clients get full coverage, or you can start by downloading our free guide.



Thank you And I hope you have a great rest of your day.



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 using the link below.


We also take insurance and some of our clients get full coverage, which is great.







Or you can just start by downloading our FREE GUIDE: 5 Ways to Improve Gut Health.







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