What You ACTUALLY Need to Know About MTHFR Gene Mutation

Dr. A explains how MTHFR gene mutations impair methylation, a process that turns genes on or off. Poor methylation disrupts neurotransmitter production, causing depression and fatigue, and slows cell renewal in bone marrow and the gut. A Harvard-linked study found high-dose methyl donor therapy helped treatment-resistant depression; Dr. A has seen similar improvements in chronic fatigue and fibromyalgia patients.
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You know, I think with social media, we've all heard the term methylation, and I certainly get a lot of questions about what it means, what it does in the body, and how, what its relationship to health is. So I just want to break that down for you. So I've been working with patients for a very long time, and of course, biochemically, we've understood the concept of methylation and methyl donors for a very, very long time. And in addition to that set of information in more recent times has been the ability to test the genomics that are associated with methylation and to look at the potential for weaknesses or other things that might sideline methylation. So to kind of break down, methylation is a transfer of a methyl group, hence the name that it got, from a donor to a substrate site normally. And when that transfer goes on, something happens. Now, a lot of times you methylate particular places tagged for a methyl donation on your genome, and that might turn on a gene or it might turn off a gene. So if we have poor methylation, then our balance of the triggering of our genome as it's supposed to be might not trigger in a way that is appropriate. So, a methylation problem could be a really big deal, right? But let's kind of fast forward past that. We've got other content on those kind of specifics. And in this one, I really wanted to talk about what would be the clinical presentation or the way you would feel if you're having trouble methylating. Because, you know, turning genes on and off, you may or may not notice that, right? But what would be the place where you actually have a symptom or a change in your health or some other thing that would make you feel like Something's not right. And maybe it's the methyl cycle, which leads us to being able to have methyl donors and do methylation. So the first area, and not in any particular order, just the first area, is neurotransmitter formation, both in the central nervous system, meaning the brain and spinal cord, peripheral nervous system, and then also places like your digestive tract, your liver, et cetera. Okay. Neurotransmitters work all over your body. Now in our brain, they make us feel particular ways. The methyl donor dependent neurotransmitters tend to be a little on the more excitatory side. So the 2 big excitatory ones are dopamine and norepinephrine, which are very excitatory and they're involved in reward circuits and memory and keeping us awake and, you know, all kinds of things, right? Also serotonin, which is generally an excitatory neurotransmitter, is also in there. So what would we feel if we're having trouble with methyl donors and our formation of dopamine, norepinephrine, serotonin, Are a little lower than they should be, or a lot lower. We could have depression. We could have sleep disturbances, too much sleep, too little sleep. We could have just a general feeling of low energy. We might have something like a central pain syndrome where we don't have a pain generated from, you know, my right hand, but we have just this general change in our pain sensation all over. Central pain syndrome. And that's a complex thing, but it comes from imbalance in neurotransmitters. This can feed into that. As I mentioned, our overall feeling of energy and our body can shift if we don't have enough dopamine and norepinephrine and serotonin. We will feel suppressed or fatigued or other things like that. So the nervous system part of what methylation does turns out to be excruciatingly important. Now, has there been, you know, studies around this with those sorts of complaints? And yes, the answer is yes. And I talked about this in another video, but just really briefly, at about the same time, and I think it was 2011, 2012, there was a publication that came out of group from Harvard and others in the psychiatry world. And then there was some data that I presented at, and they came out kind of at the same time. The psychiatry data was on methylation and treatment-resistant depression. So think about treatment-resistant depression. Usually what that means is that your psychiatrist is giving you antidepressant medications and they're not working. That's their definition of treatment-resistant. So they took and they gave methyl donors at high, really high dose to people with treatment-resistant depression, and they had a very high response rate. Wow. Response rate, higher than any drug had responded. And so that got published just about the time that I was presenting not on depression, but on chronic fatigue fibromyalgia patients and the intervention of methyl cycle support. And indeed, and you can listen to the other videos if you want more data, but basically the upshot of it was that when people were stuck in their chronic fatigue or fibromyalgia rating scales, and we'd done all these other things to help out their health, when we supported their methyl cycle defects with with methyl cycle donors, a little more balanced than what the psychiatrists were doing, but anyway, support, same way, they would improve their scores also. So at that time we had this, those are all essentially brain-oriented effects. Now there's some other effects that I'll get to with the next steps, but those things, and then since then there's been many other publications about methylation, methyl cycle defects, and both CNS proper neuropsychiatric things, and then CNS and peripheral body other Methyl cycle support areas. What else does methyl donation do? Well, that you might feel rapidly dividing tissues in your body. All tissues in your body need methyl donation to help. Otherwise you would not have the cells turn over. Okay. And there's a lot behind that, but that's the bottom line. If we don't have proper methylation, we don't have proper cell turnover. So that might affect my bones, which are mostly fairly slow growing or something else, but my rapidly dividing tissues. And so we talked about our neurotransmitters. Those are very rapidly dividing, but our bone marrow, our digestive tract, your skin and your hair, some of your connective tissue, not all of it, some of it. So what would that feel like? Do I sit down and feel like, well, you know, my marrow feels kind of slow today or something? No, it's not like that. What it really feels and presents as, if my marrow is not well tuned in reproducing bone marrow progenitor cells that are going to become maybe immune cells like natural killer cells, T cells, B cells, maybe platelets, maybe red blood cells, maybe other white blood cells. If it's not doing that at the right rate, that can affect a number of things. It can affect my clotting, could affect my oxygen-carrying capacity, can affect pain through the natural killer cell system. But main thing, it's going to affect my immune system. Well, in the chronic fatigue fibromyalgia community, there is a lot of either overt or covert underlying issues around Chronic infections and the sensitivity to being open to chronic infection, and it turns out that the marrow not having everything it needs is a rapidly dividing tissue. This is one of those areas. So that's one. So immune system things would be a big way to say that digestive system—it's almost ubiquitous in chronic illness for people to have a lot of digestive system issues, chronic mal digestion, inflammation with eating improper, you know. Good bacteria, etc. All that. Well, if you think about it, your GI tract is a fairly rapidly turning over tissue, and that kind of makes sense because we're constantly putting food through there, and we have to repair and replace and all of that stuff. And so, in our chronically ill people, we saw lots and lots of digestive system problems that would need changes in diet and changes in other you know lifestyle parameters and better hydration and better you know probiotics and all the stuff. But the treatments we would do often. Often wouldn't, you know, take or kind of stick until we got their methylation working so that they could go back to producing their cells at a more normal rate. Really, really important subpart there. So when we would look at people, and there's many others, but I just want to use a couple of things as an example. When we would look at people and we would say, okay, we've done all these things to directly support their digestive health, get it back online. We've done all these things to directly support their immune system and chronic infections and everything else. And we're doing, you know, all of these things to support their neurotransmitter balance and their brain chemistry and everything. But it's like we, you know, you were taking 2 steps forward, 1 step back. What would tie that together to help kind of hold the benefits in? So maybe we get 3 steps forward and only 1 step back or a little more progress. Well, it turned out that supporting the methyl cycle and ergo supporting genome stability and supporting cell turnover through all of these various tissues is able to directly and indirectly support from the brain chemistry function to the overall feeling of energy and wellbeing to digestive and absorptive function and immune function and on and on. And so that's really why the methyl cycle and then methylation particularly becomes so important in overall health. And in my opinion and experience, extremely important in the chronic illness patient. All right. I'm Dr. A. These Great questions we get, and I love answering them. Please, if you haven't subscribed, subscribe, like, comment, share, do all the things. Appreciate all of you, and we're going to put up some other videos for you to watch. Go to the main YouTube channel. We have some great videos there. We've got hundreds of them you can look at. I'll see y'all in next video.










