That MTHFR Gene: The Basics

You may have heard of this gene before, but have no flippin’ clue what it is! That’s ok - depending on how detailed you want to get, it can become a VERY complex and unnecessary rabbit hole! Because of this, I’m going to break this down into several blog posts, that way we can keep with the goal of Loving Health LLC in keeping health simple. Part 1 - let’s just talk about what MTHFR is, and this whole gene mutation ordeal.

Number one thing before we go any further: Dr. Ben Lynch is the ultimate expert when it comes to genetic variations! If you want to dive deeper than what you read here, start with his website or book, Dirty Genes.

MTHFR stands for methylenetetrahydrofolate reductase, and it is a gene that produces an enzyme, both referred to as MTHFR (thank you great scientists for that confusion). This enzyme stimulates a process called methylation. Dr. Lynch states in Dirty Genes that methylating is “a key process that facilitates at least two hundred functions in your body, from skin repair, digestion, and detoxification to mood balance and clear thought” (20). Here is a great podcast episode with Dr. Lynch that I thought was very well presented, clear in explanation, and had many great genetic tips. We will pause to emphasize the most important point I believe he made during that episode, which is, DON’T PANIC! Helps that I put that in all caps, right? In all seriousness, not all genetic variations are bad. Not to keep quoting Dr. Lynch’s book, BUT, "SNPs in the MTHFR gene, for example, can make you incredibly focused and determined to solve problems. COMT SNPs can give you tons of energy and buoyancy, enabling you to face life with an enthusiasm that many less energetic people might envy” (34). It’s like he used me as his example! Yes - I have both of those SNPs as well as that describes my personality. So, as we continue, let’s remember that just because you may have a SNP or genetic variant, that does not automatically make you tainted, sick, or dying. It can actually be a part of why you have your areas of strength.

Speaking of SNPs (pronounced snips), it stands for Single Nucleotide Polymorphisms. These are what makes your gene different than what science has said a textbook perfect gene should look like. So, for the MTHFR gene, there are two common mutations, and they occur on the 1298 & 677 “positions” (that’s just “sciencenese” for part of the genetic makeup). In a perfect world, with pristine genes for everyone, these two are supposed to look like 1298AA and 677CC, and you have two perfect copies of each, making four textbook perfect copies in total. You may also see them written, A1298A and C677C. I won’t get into the details of what the numbers and letter mean, otherwise I should really be writing you an entire book. Moving on, this is where it can get a little more complicated because we start talking about the different variations. There are basically four possibilities:

1. No genetic variation = A1298A x2 & C677C x2 = 4 happy copies

2. Homozygous = Mom and Dad each gave you their mutated copy of the same SNP = A1298C x2 OR C677T x2 (Note that the letters are different. That’s the mutation.) So, you have the same mutated copies of EITHER the 1298 or the 677 (Homo = same), which means 2 happy copies, and 2 mutated copies.

3. Heterozygous = Mom or Dad gave you their mutated copy = A1298A x1/A1298C x1 OR C677C x1/C677T x1. 1 happy copy, and 1 mutated copy of either 1298 or 677; with the other gene having no variation. 3 happy copies, and 1 mutated copy.

4. Compound Heterozygous = Mom and Dad each gave you their 1 mutated copy of different SNPs = A1298A x1/A1298C x1 AND C677C x1/C677T x1. 2 happy copies, and 2 mutated copies.

Know that I am NOT a geneticist or an expert, but I am simply a nerdy, research-loving mom with these genetic SNPs who went to nursing school, and learned how to read some science. So what does having one of these genetic variants mean? Well, it depends on the person, and what other genetic mutations you may have. But like I mentioned above - methylation can be unaffected, slightly affected, or severely affected with this mutation. MTHFR mutation can contribute to risk of cardiovascular issues, miscarriages, blood clots, irritability, anxiety, and the list can go on and on. Are you feeling overwhelmed at this point? I know I was when talking through all of this with my FM Physician Assistant several years ago. If you are, I encourage you to pause for a moment. Reread some things, if you feel the need to, jot down questions as they come up, put those questions in the comments, send me an email, or do some more digging on your own. I also want you to remember that MTHFR is one gene…one of thousands and thousands of genes that makeup who you are. Our bodies are designed with backup systems, to be able to heal, and there is absolutely no reason this subject needs to cause anxiety.

Some of you are simply annoyed that I haven’t continued on to talk about how to find out if you have a mutation, what you should do about it, and links to all the supplements you should be starting! You need to breathe too. Why are you so anxious about this? I know I was because all the hype over MTHFR says that I don’t detox well, and all the things I mentioned above. You may be wondering if this mutation is contributing to your high blood pressure that just won’t budge, if it’s related to your baby’s tongue/lip tie, or if it is why you are so irritable all of the time. Maybe you didn’t even know those things could stem from this mutation. No matter what brought you to this post, please stop and consider why you are reading this. I don’t think it’s wrong at all to want to understand your genetics, the way your body handles this world, or dive deep into your health. In fact, I applaud you for caring about your health so much! But, if you’re coming here looking for the next supplement to add to your growing collection, or the magic answer that is going to cure you of death - I’m sorry to tell you that no matter what you learn about MTHFR here or anywhere, there will always be something else. And I don’t want you trying to learn about anything health related from a place of fear.

I know - a bit of a harsh curveball there, and maybe that doesn’t apply to you. I just want to make sure you don’t end up where I was 2 years ago. Spiraling into every health rabbit hole I could find, trying every restrictive diet, every supplement prescribed or recommended, and wanting every single test run on me that existed. It was all in the name of health though, right? So, totally fine. Well, what about your emotional health? What does chasing secret answers down rabbit holes do for your mental health? Let’s not forget that these are CRUCIAL aspects to our overall wellbeing just as much as physical health.

All that to say, let me end with what to do with testing, then I will write a completely different blog post on results and living with MTHFR. If you have already done testing, then great! Next step is to get your hands on Dirty Genes, so you can know exactly what you should be doing to optimize your health. And, if you need help implementing any of the protocol or don’t really know where to start, please don’t hesitate to set up a free consultation to see how I can best support you in this.

If you have not received any testing, don’t worry! You really don’t have to. BUT, if you do for whatever reasons, please don’t just go to anyone. Why? For one, they may not be able to explain it well, which may lead to anxious confusion for you. I highly recommend you look into Dr. Ben Lynch’s book, Dirty Genes, before you do anything else. THEN, if you still want to move forward with testing, check out StrataGene. This does not actually test, but I wanted you to see it first because it uses the raw data from either Ancestry.com or 23andMe.com tests to give you a report that is practical, clinically reviewed, in-line with current research, and developed by the expert, Dr. Lynch himself. Feel free to look into those options or set up a free consultation to see what next step would be optimal for you, personally.

There are also many other testing companies that test for MTHFR mutation, and you can certainly do whatever your heart desires. Just know that if someone runs a test, tells you your SNPs, then proceeds to give you a long list of supplements you need to start taking every day, that they may not be the best option for you. To best work WITH your genetics, you need to understand how they play with each other, contribute to your strengths, weaknesses, and how to cope with those in a sustainable way. A bunch of supplements are not always sustainable, and are usually not a forever fix. I take one or two supplements every day, and definitely think supplements are a great tool to use, but when I see people taking their arsenal of supplements every day, I am saddened. There are more sustainable ways than taking 10 supplements every day multiple times a day! But, I digress. I, personally, did 23andMe, then had my raw data interpreted by a professional because StrataGene did not exist when I got my results years ago, but that is definitely the route I would have taken with my results!

This is where I will leave us today as I feel it is plenty of information for you to mull over, and some simple, actionable steps for you to take in bettering your health simply and sustainably. Keep an eye out for the next post that will go over testing a little more in-depth, and how to actually live a simply healthy life with MTHFR.

***DISCLAIMER: Anything on this website or blog is not to be taken as professional medical advice as I am not a Doctor, Nurse Practitioner, Physician’s Assistant, or Nutritionist/Registered Dietitian.. Please consult your healthcare provider before implementing any tips or tools you may find here.