A Doctor's Guide to MTHFR Gene Mutation: Symptoms, Risks, and Treatment
Dr. Andersen explains how MTHFR gene variants affect methylation and enzyme function. Having the mutation alone doesn't cause symptoms; epigenetic stressors like infections, toxins, and stress activate it. Treating it with high-dose methyl donors can backfire, so instead test the whole methylation pathway and use balanced, low-dose supplements while cleaning up environmental stressors.
Chapters
By now you've probably heard of a gene called MTHFR. You ever wonder really what it is or what it does? This is something that fits into an area I've been helping people with chronic illness address for many decades now, and I want to share some information that gets into MTHFR, what it is, how it presents in a human, and what we can do about it essentially. So let's break those things down. First, MTHFR is methylene tetrahydrofolate hydrofolate reductase, since the initials are easier to say. And it's an enzyme that helps to build a methyl donor, meaning methylfolate, with the help of vitamin B12. A methyl donor is a single CH3 molecule that can be cleaved off of the methyl donor and go do something. Normally when you do that, you're undergoing what's called a methylation step. So the molecule previously was not methylated, and we are going to go with the help of a methyl donor and break off that methyl portion and put it onto the new molecule, which will now be methylated or activated. A lot of times this is part of your DNA activation in your gene sequences, and methylation has the ability to both turn on and turn off genes along your genomic structure. So methylation becomes a very important thing in signaling. Also, methylation becomes very very important in downstream activation of pathways that might lead to some of our brain chemistry, our neurotransmitters being turned on. These genomic steps can also lead to important things in cell turnover, regulation of cell turnover. So what we want to do is get into how can this go badly, and then what things can we look at that may be helpful either diagnostically or as a therapy. So the first thing that you want to think about is how could this natural process inside of us, that is to create methyl donors and then donate them over to another place, how could that go off the rails or go awry? Well, you could have part of your genomic structure that has something called a single nucleotide polymorphism or a SNP. SNP is easier. It's less, less to say, but it means single nucleotide polymorphism. And you can have these, they come in pairs. And so if you have a polymorphism It means that the part of the pair or both parts of the pair are not in the same position as a quote unquote normal gene would have. So that means you're going to have a defective code for this enzyme or this process, right? So if I do that, then the next thing I need to remember is the SNPs, whether they're single, which is heterozygous or double homozygous, have to be turned on epigenetically, which I always think of as outside forces. Epigenetic around the genome. Outside forces are beating on these weaker areas that are not the typical pattern. So there's SNPs, right? So the first thing is, let's say we take specifically MTHFR, the gene. The first thing we need to remember about it is it has a number of subtypes. So there are different identifications, they call them RSIDs with long numbers after, under MTHFR that say, well, this MTHFR is this version and this one is the The other version, this one's the other version, a whole bunch of them. And your body has redundancies. So you may say in the 677 have a number of 677s. You might have a number of 1298s. You might have a number of the other ones, right? Some are more studied and we know that some are more pathologically active. And we'll talk about that in another video. But yes, you have redundancies there as well. So the first thing you need to remember is it's not just one MTHFR gene pair. You've got a whole bunch of them. But then the other thing is, do we Have any idea from the research how much a single side or a heterozygous SNP defect versus double side homozygous defect will slow a gene down in its doing whatever business it does? In the case of MTHFR, running that cycle of methylating folate. Well, what we can assume from research that's been done on genes in in heterozygous single homozygous double is a heterozygous defect probably decreases the activity of. Whatever it makes, in this case MTHFR, by 25 to 30%. So you know about a quarter decrease. Homozygous is going to be somewhere in the range of 60 to 70% at least. So about two-thirds decrease. So obviously we're going to have more trouble with MTHFR if we have a homozygous two-sided defect. Now there's another one that can be somewhere in the middle, and that is where you have something called a compound heterozygous, meaning that one family of MTHFR So far has one side that's not working right. And the other family that's not the first family has the other side. This haplotype was 677 and 1298. And so you've got this sort of crossed problem in the SNPs, but it's heterozygous on both, but it's a compound because they both are trying to code for the same thing. That's sort of in the middle somewhere. Okay. Compound heterozygous. So that's what those things mean. Now, what if we haven't beat up these genes epigenetically? Things have been pretty clear. You're young, you're healthy. Whatever you could have homozygous SNPs in these areas and have no symptoms from it, and that's because we have not epigenetically beat on these things and turned them on. So what do we tend to see? We tend to see young adults in their twenties and thirties usually when these things start to present. Have I seen little children with methylation genes that have been turned on? Very definitely, and often they are children who have had sort of accelerated epigenetic. Stressors. Now, keep saying epigenetic—that's anything that bothers your body. It could be infections. It could be stressors around you of any type of stressors. Could be malnutrition. It could be other physical forces that go on. Or in the case of the children I've seen, it's often toxic influences, toxic and toxic influences. Seeing children that the parent family didn't realize at their house, all the ground around it, you know, had very high lead levels, and the child was exposed heavy metals, other chemicals. Chemicals, mold toxins, they turn your genes on. They, they're very big epigenetic stressors. So in almost every case of little children with these methyl cycle problems that became very apparent, it was an epigenetic stressor that sped it up. So instead of at 25 or 35 or 45, it turning it on, it was 5 or 6 years old. Okay. So that's kind of the nature of epigenetics. Now the next thing is, and we can kind of think reductionistically about this and think, well, if I have a problem and I have these SNPs and let's say The SNP is supposed to help me make a methyl donor or transfer methyl donor, then couldn't I just take something specifically to treat that SNP? Okay, it's cool. It's called treating the SNP, right? Well, the answer is you can do anything that you want and that can help initially. But the problem is that we have a very large genome that codes for all sorts of things. And in the case of almost everything, but especially something like MTHFR, that is only one step within a cycle that we call the methyl cycle. And then that methyl cycle interacts with other things, right? So if I just do one thing and treat that SNP, so let's say I give methyl, premethylated B12 and folate, methyl B12, methyl folate, they give a whole bunch of it. I'm kind of treating that one place where the problem is. That can help initially, but when you do that, you speed up the cycle and it's like putting your foot on the gas and speeding up and eventually something else will And so the cycle becomes important and supporting the rest of the cycle and not just treating the one problem helps you have a balanced approach to help the whole system. And this is why we often find that people in the beginning may read something or watch a YouTube video or whatever, and they're like, oh, I had MTHFR positive on both sides, homozygous. I'm going to just take a bunch of methylfolate or a bunch of B12 methylfolate. And that works for a little bit. Then they become imbalanced in some way from it and not doing well. So That's when overtreatment happens. Well, overtreatment is generally because we are not supporting the rest of the cycle. So what is a better long-term strategy as a way to deal with this? So the first thing is to consider that we have our genetics, but then we have epigenetics, which are all of the things that affect our genome and can either put more stress on the SNPs that we have or take stress off. A book that I recommend because it is very well researched and it gets into the mechanics of how to kind of clean up the epigenome is a book by Dr. Ben Lynch called Dirty Genes. Now it's genes, G-E-N-E-S, not jeans like the ones that you wear. Dirty Genes, you can find it anywhere you get books by Ben Lynch. And it is all about this idea. And so Dirty Genes, it's about cleaning up the system because You can supplement your way through slowdowns and all of that, but you really need to clean up the system so you don't need as much effort into treating the SNP and putting too much effort into that and imbalancing something else. So I really highly recommend, I don't get anything for saying this, it's just a good book called Dirty Genes by Ben Lynch. The next thing is if you're going to be testing things and you can test the whole cycle or all the related cycles, that's better. Because if you're going to work, let's say, you know, you have MTHFR Mm-hmm. So the more, you know, pathogenic one. Okay, well, you're probably going to need a little bit more, you know, methylfolate, methyl B12, and support. But you got all the other parts of the cycle and you want to support that. Well, if the other parts of the cycle don't have any SNPs in them, they don't need a ton of support. They just need sort of basic support. But if some of them are really broken and they need a lot of support, you might need your methyl donors and a bunch of other support over here. But if you don't know that, then you'll just be sort of over-supporting the one SNP you know about. So knowing the Also knowing that the methyl cycle interacts with other cycles and they might need support as well. So looking at it from a holistic point of view is going to do a much better job for you. The other thing is if you're going to start and do supplementation to support it, again, I recommend very strongly that you look at the book Dirty Genes and get the epigenetics cleaning up and all that. But if you are going to support, I recommend instead of doing what I said earlier where people take high doses of active B12, folate, and all the other stuff, start Start low and work your way up. There's supplements like called Methyl Balance that are made that have all the active forms, but they're at very moderate doses. So you're not overdosing anything and you're supporting all the other parts. There's other supports like that that you can do. So it's very easy to do and you can do 'em at the same time. You can be cleaning up the dirty genes and supporting them nutritionally while you move forward. You don't have to do one and then the other or something like that. All right. Well, this was a great question that came in about MTHFR and how it works and how to deal with it. We have other content on this. I'm Dr. Andersen. Thank you so much for watching. Please, if you haven't, please do subscribe, share, comment if you want to, anything else, notifications. We really appreciate everybody in the community, and I'm going to put up some other videos for you to take a look at here. Also check out our playlists over on the YouTube channel, and I'll see you all on the next video.
