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MTHFR Gene Mutation Myths

Do you have questions about your MTHFR gene mutation? Maybe you are reading that some information about MTHFR are myths and you are confused.  I find there are a lot of questions and confusion about MTHFR gene mutations.  Specifically about what supplements you should be taking.  Like, should you take glutathione, vitamin B12, or something else when you have MTHFR gene alterations?

In this article, we will help you understand what some of the myths and what some of the truths are about MTHFR gene mutation.  We will look at how to get more concrete personalized understanding and what is needed for balance when you have this gene mutation. 


If this interest you keep reading, we are going to get into the details. 

MTHFR Gene Mutation Myth #1

The first MTHFR myth is; if you have MTHFR gene mutation, you have to do something about it.  For instance, you have to take a supplement or do something to rebalance the effects of the gene alteration.  The truth of this really depends on which part of the gene is altered.  So I want to go into that a little more detail to make sure you understand this point.  Just because you have a report that says you have MTHFR, does not necessarily mean it will impact your health in a significant way. 

There are two spots along that MTHFR gene that tend to alter the outcome of the protein that is made from that gene.  The gene is made up of a double helix and cross connections between base pairs.  You can think of the cross connections like the rungs of the ladder.  These rungs are where the double helix fit together by electromagnetic bonding.  These are the nucleotide base pairs represented by  A's T's C's and G's and they fit together electromagnetically.  One of the pairs can be changed and replaced with a different one.  For instance, an 'A' can be replaced with a 'T'. The configuration for any gene that is most optimal and common is called the wild type. 

The MTHFR gene is made up of over twenty thousand of these base pairs.  So twenty thousand of these double helix base pair connections long.  One side of the pair comes from mom and the other side from dad.  Along this twenty thousand there are two spots that are correlated with changing the protein outcome.  At each spot, you can have one change or two changes.  So both base pairs can be flipped or replace or just one of them can be.  Without getting into too much nuance here, the spots that are most significant are A1298C and the C677T. 

The A1298C spot is less associated with a significant change in the protein outcome.  The C677T spot has more significant impact on the protein outcome. Because you get one from mom and one from dad, there are a few different combinations that you can have.  One change at the spot A1298C is not very significant, but two here can be.  On the other hand, if you have one at the C6 77T spot, this also can be significant.  Each case should be taken into a larger context of your health and labs.  Those with two of this C6 77T will definitely be significant. 

The bottom line is you can have different combinations of MTHFR.  Depending on what you have, this may not be a very big problem for you.  So if you have an MTHFR gene mutation that doesn't mean you have to take some supplement or do something to fix it.  Get the details of your genetics and health and let that drive your decisions on what to take and do.  


MTHFR Gene Mutation Myth #2

Another MTHFR myth that I want to bring up is; if you have MTHFR gene alteration, then you your health is compromised in some way.  Of course, this is a similar trend to the first one but wanted to separate this from the points made above.  Your health is a expression of your genetics and the environment.  It is a living thing.  It's not static but genes and genetics are static.   You can turn genes on and turn genes off but we are looking at your MTHFR gene status.  This is not going to change over time but what does change is your phenotypic expression, aka your health. 

So to start you want to ask is your health compromised in some way? What's currently going on within your body.  Are you having any symptoms MTHFR gene alterations like problems with depression, mood alterations or even any fatigue.  You also want to look at any physical signs that tell us that there's a problem. 


If you don't have have any of these problems, it doesn't necessarily mean you don't do anything about it (if you have C6 77T homozygous).  It does mean that you may not need to do as much as you originally thought.  Just because you have an MTHFR gene alteration does not mean your health is somehow compromised.  It does mean this particular part of you biochemistry is susceptible to being compromised.  As a result, you have to be more aware of it. You can think of it in a similar way to a family history of heart disease. With this you may want to watch your cholesterol a little closer or your blood pressure closer. Similarly, when you know that you have the MTHFR gene alteration what you do will depend both on what your current health issues are and which alteration you have.  It is combination of those two things that informs us what we do about it. 


MTHFR Gene Mutation Myth #3

MTHFR myth number 3 brings in the concept of methylation.  The myth is, if you have MTHFR gene alteration, you don't methylate.  This would be more accurate (and not a myth) if we simply say you don't methylate well.  Again it really depends on which MTHFR gene alteration you actually have.  In some cases it can be true that your methylation process is impaired but most are not.  What does methylation mean though?  

The process of methylation is a biochemical process of adding a methyl group on to another molecule.  A methyl group  is a carbon with three hydrogen's.  You can think of the utility of this process as helping the body make molecules more active or less active. This methylation process occurs (in some parts) through utilization of the MTHFR enzyme and methylfolate.   However, there are alternative pathways that can allow methylation without using the MTHFR enzyme and methylfolate. 

You can consume molecules with methyl donors in our food in the form of methionine, for instance. Methionine is an amino acid that is has methyl groups on it already.  This can be used in your body to create SAMe.  SAMe is the major methyl donor for the methylation process.  There are also alternative ways to create and recycle methionine without using the MTHFR and the methionine synthase enzymes. 

The main point is, if you have MTHFR gene mutation there are other ways your body can methylate and support methylation in general. It could mean that some of your methyltransferase enzymes are slowed down or compromised. The MTHFR enzyme itself doesn't turn those off. It creates methylfolate which allows for SAMe to be made efficiently.  So with less methylfolate, there is  a slow down in the production of SAMe. As a result the enzymes that depends on SAMe are slowed.  Especially when you have a more significant MTHFR gene alteration

In summary, we know it is inaccurate to say, I have MTHFR gene mutation, I don't methylate well.  This is not out right false but it is misleading. It can be true in some instances but most of the time there are alternative ways that your body can perform this function.  It really depends on your gene state, your overall health, and what your diet is. 


MTHFR Gene Mutation Myth #4

The fourth MTHFR myth that I want to discuss is your need for taking methylfolate when you have MTHFR gene alterations.  Many people think if they have an MTHFR alteration, they have to take methylfolate.  At face value this is false.  Just like some the other points discussed above, it will really depend on which gene alteration you have, and your current health situation.  Not everyone has to take methylfolate.  Many of my patients that have MTHFR gene alterations do not take it.  In some instances, it's just not relevant for them.  The relevance is determined by how you respond to methylfolate supplementation and if you have other chronic health issues. 

In these cases you may have to use alternative nutrients to support and balance out the methylation status in your body.  This can be measured through labs.  Homocysteine is one such lab that can be used to determine whether or not you need more methyl donors.  Sometimes we also use a more advanced tests like the SAM/SAH. The main point is that our health status together with your MTHFR gene status determine whether or not you need to take methylfolate. 

The other thing is there are other gene alterations that cause you to need other nutrients to balance out the methylfolate when you take it.  This is true for those with COMT, transulfuration, and detoxifcation SNPs.  In summary you should look at the actual gene mutation you have, current labs, your current health status and  other gene alterations or SNPs.  All these together will determine your response to and need for methylfolate. 


MTHFR Gene Mutation Myth #5

The fifth myth is that MTHFR gene mutation doesn't matter so you shouldn't worry about it.  Some say to forget about it and don't even think about it.  This is certainly a myth because there are plenty of health-related consequences from having MTHFR gene alteration. Now that does not mean that everyone that has a slight alteration or even a major alteration will have compromised health because of this.  I recommend raising your awareness to some of the possible symptoms that can come up when you do have it.  Here are some things to keep in mind.  Having an MTHFR alteration can lead to:

  • Increased risk of clotting disorders and  cardiovascular related issues. 
  • Increased incidence of mental health issues 
  • Neurological problems like neuropathy

The most common that we see are related to mental health and  fatigue.  There is plenty of research to support these claims.  Here is a link to a recent review article that brings together multiple studies looking at health consequences of MTHFR and it's different variations.

In summary when you have MTHFR it can mean that your health is compromised in some ways.  However, you really have to pay attention to specific health issues and be aware that these things can come up. 

Lastly if you have MTHFR gene mutation does that mean you need to take more b12? There is no reason you need more B12 just because you have MTHFR.  However, there are genetic issues with B12 recycling as well.  When it comes to MTHFR it's really methylfolate (other methyl donors) or riboflavin that is going to help.  In some cases, if you are supplementing with methylfolate and doing things for MTHFR you may need b12 too.  You wouldn't just take B12 because you have MTHFR 

In a similar vein, sometimes people get lists of things to take because they have MTHFR.  For instance, you need to take glutathione and cysteine, liver support, and probiotics and different things like this.  We can make a case for why you might need a dozen or even more supplements. 

Instead think about customization and understanding how your body responds to these different nutrients. Think about and explore how your blood markers change and how you feel when you make these changes.  Just because you have MTHFR does not mean you need to take a huge list of supplements.   You may only need to take the methylfolate but it may only need to be consumed on an irregular basis. Other times people do have to take four or five or even more different supplements temporarily. This can change over time too as your body changes and you come into more balance with all your nutrients.

I hope this gives you a better understanding of the MTHFR gene mutation myths that exist.  It should give you a more concrete and actionable way of approaching MTHFR gene mutations.  If you have questions about any the content in this article, please ask in the comment section. To get a customized nutrition, genetic, or health plan, click on the link below to get started. 


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