In this educational video Dr. A explains the role of the MTHFR enzyme in converting folic acid to its active form, 5‑methylfolate, which fuels the body’s methyl cycle. He outlines the two most studied genetic variants (C677T and A1298C), describing how heterozygous and homozygous SNPs reduce enzyme activity by roughly 25‑33% or 50‑66% respectively. The reduced production of 5‑methylfolate leads to downstream consequences: impaired neurotransmitter synthesis, slowed DNA synthesis affecting rapidly dividing tissues (hair, skin, nails, gastrointestinal lining, bone marrow/immune cells), low‑energy states, and elevated homocysteine‑driven inflammation. Dr. A then offers practical mitigation strategies, recommending consumption of dark leafy greens rich in methylfolate and, when needed, medical supplementation with 5‑methylfolate (often as part of a B‑complex). The video concludes with a call to subscribe and a preview of future therapeutic content.
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MTHFR. Many people have heard about this. They know it's somewhere in the genome. They know there might be some genetic differences or SNPs associated with it. And we get a lot of questions about how would that affect my health? How does downstream effects from maybe having some genetic abnormalities around the MTHFR gene change the way that my health works? Let's get into some of the major reasons why that can happen. So the first thing is that MTHFR is Methylene tetrahydrofolate reductase. So what it is going to do as an enzyme is take a preform of the active folic acid methyl 5-methylfolate, and it's going to convert that preform over to 5-methylfolate, which is what is used in methyl cycle transfer. So that's very important to know first. But the other thing to know that's very important is MTHFR is just one of many intermediate enzymatic Anytime you see cycle in the body, like the urea cycle or the thiol cycle or any other cycle, there is more than one thing. And usually it's feeding back from the beginning to the end in a never-ending circle. Now, why is it important for MTHFR to be part of the methyl cycle? It's because we need that to take plain folic acid or folinate and get it converted to this active form. But there's other parts of it too. So I just want to make sure you understand that. Make sure that we give some credit to the fact that MTHFR is not the only important enzyme here. It just happens to be the one we're talking about because it's famous. So there's many other parts of that cycle. When we run the cycle and MTHFR works, it creates 5-methylfolate, the active version of folic acid. And then that active version can go over and be a methyl donor. And methyl donors are going to be used in really important things like DNA DNA synthesis, rapidly dividing tissues, a lot of brain chemistry, all sorts of good things. But you might say, well, okay, so I've heard, I've seen some videos about people saying, well, I have SNPs at MTHFR. Well, the first thing to know is, yes, it's part of a cycle. So other parts of that cycle may be feeding into dysfunction. The next thing is there's not just one MTHFR. There are different subtypes and there are 2 kind of more studied ones. There's a C prefix and an A prefix one. And what happens is a SNP is a single nucleotide polymorphism, and you get one from each parent, one side of each gene pair. And so what happens is if you inherit one polymorphism and the other is normal, so one parent donated a polymorphism that's not normal and the other parent donated a normal one, you have what's called a heterozygous pair there. So you've got half abnormal, half normal. If both parents donated to you an abnormal one, you have a homozygous pair, and that's 2 sides that are dysfunctional. Now, they're not not working, but they're dysfunctional. So in studies where they've looked at single-side heterozygous versus double-side homozygous, you decrease whatever you're coding for's activity with a hetero one side by about 25 to 33%. If you have 2 that come together, you decrease the activity of whatever you're coding for by 50 to 66%, half to two-thirds, even more in some cases. So if I am homozygous, meaning both parents gave me a SNP and it's for the most kind of critical MTHFR, the C677, then I'm going to have a decreased function of that. And that's going to code for this enzyme that helps me to activate my folic acid into 5-methylfolate. So this is where the genetic part comes in. So if I don't have any of these genetic problems and I'm eating appropriately and everything's working, I'm going to run the methyl cycle and the MTHFR is just going to activate the methylfolate into the active form and it's going to go on and do all the good methylation things it does. If on the other hand, I inherit one-sided of the SNP, I'm going to decrease the activity of that conversion by a quarter to a third. If I inherit 2, I'm going to decrease it by half to 2/3 roughly. So this is where the genetic part of it comes in. So What would be a downstream problem if I inherited 1 or 2 there and I decreased the amount of 5-methylfolate that I am making? Well, I said that methylation has 2 big picture things and then a lot of downstream things. The first big picture thing is it's involved in a lot of neurological neurotransmission activities and forming neurotransmitters and all of that. So in some cases, you might wind up with certain types of neurological or neuro-emotional types of changes that go And that could be manifested in many different ways with poor MTHFR function. The other though is DNA synthesis. So in the formation of the nucleotide cascade where you're trying to make DNA, obviously we need to make DNA for cell turnover. That's kind of a big deal. So if I have slow cell turnover, I'm going to have poor regeneration of tissues. But the other thing is that not all tissues use the active folate in the same speed or the same amount. So if I have DNA slowdown, my rapidly dividing tissues are going to be hit first, and I'm going to notice it there first. So in addition, so you think of rapidly dividing, we think of like hair, skin, and nails. Certainly that's part of it, but also your GI tract lining is one of the more rapidly turning over sets of cells. So you can get digestive dysfunction. And then also your bone marrow. So the production of your blood cells, but also production of your immune cells can be affected because that's very rapidly dividing tissue as well. So we can have downstream problems from MTHFR that might affect us in an immune manner, in a GI function or repair manner, in overall cell repair, in brain chemistry, et cetera. The other thing that people notice, which is sort of a combination of a lot of these, is a slow methyl cycle, slow methylation through MTHFR might cause low energy states. Now, low energy has a lot A lot of reasons why it happens, but this is one of the reasons for it. And so helping in correcting the imbalances of MTHFR gene SNPs are helpful downstream for the health of the person. Another thing that methylation does through the activation of 5-methylfolate is to help to process homocysteine, which is an inflammatory mediator. And if I'm processing that, I have less homocysteine, I will have less inflammation that could affect the brain, The heart, the blood vessels, et cetera. All very good, all very important. So you might say, well, if I have genetic problems that's creating MTHFR slowdown, can I do anything about that? Answer is yes. So number one, you can eat high methylfolate foods. These tend to be a lot of the dark greens have some methylfolate. There's research from Europe looking at the different types of folate and the foods that come with it. There's a lot, a lot of the vegetables, but a lot mostly of the green ones come with some methylfolate. In medical circumstances, what we will do is give people 5-methylfolate as a supplement, and usually that's added to a B complex or some other mixture that goes on. And that's another way to help out if you do have these problems. So I hope that answers the questions about why MTHFR gene issues, the SNPs that people get, would be a problem, what they can have downstream as far as health effects, and a little bit about what you can do about it. We'll do some other content On therapeutics around that. I'm Dr. A. Thanks for listening. Please subscribe if you haven't and like, share, do all this stuff. We love putting out this information for you and answering your questions. And check out the screen here for some other information we're going to put up. I'll see you on the next video.
