Solving MTHFR Confusion with Dr. Doni | How Humans Heal

Dr. Doni Wilson clarifies MTHFR: the gene makes an enzyme that activates folate, but blood tests often miss it. High-dose folate can backfire. Real treatment addresses stress, gut health, B12, and minerals first, not just folate alone.
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Hi, I'm Dr. Donni Wilson, and welcome to How Humans Heal. This, by the way, is my desk cat, Ally, who's asking for snuggles here. Today in this episode, I want to talk about some of the most common misconceptions and confusion about the MTHFR gene. This is a gene that I happen to have studied quite a lot about because I also have two gene variations of mthfr. And I help patients all the time to resolve the confusion and resolve their health issues associated with mthfr. So I really want to dive in and teach you, starting with where all the confusion happens and then where to go from there. So let's start by the first question, which is usually, what is the MTHFR gene? It is a gene associated with the nutrient folate, folic acid, which turns into folate. That's the job of the MTHFR enzyme. All of the enzymes in our bodies are coded by genes and they usually have the same name. The MTHFR gene creates the MTHFR enzyme, and the enzyme's job is to turn folic acid into folate, what we sometimes also call methylfolate or 5mThF. That's the more chemical name. Now, MTHFR stands for methylene tetrahydrofolate reductase Enzyme. For those of you who might be wondering what the big long name is in science, a lot of times we take the first letter of each part of the scientific word and turn it into an acronym. And so that's how we get mthfr. And again, it is completely related to the nutrient folic acid and how well your body can turn it into folate. Folate is the active B vitamin, also known as B9. Right. So much of the time we hear about B6 and B12. Well, there's also a B9, and then we usually call it folate. Now, the thing is, is that a lot of these words end up being used interchangeably. And so that's another big question and source of confusion is especially in the research, in the textbooks.
Even in the blood results. The labs think of folic acid and folate as if they're the same thing, but they're not the same thing. Folic acid is an inactive form of the nutrient, meaning the body can't use it in the form of folic acid. It has to turn it into folate or again named 5mthf methylfolate in order to do anything with it. So they're not the same thing. And unfortunately, the way that it gets reported on blood work makes it very confusing because if your doctor tests for folate in your blood, it's actually also testing for folic acid and various other metabolites along the way. So folate is not just folate on your blood work results, which is why I don't tend to do that test because it's not going to give me the information we need. It's also very unhelpful test because it's really just testing the amount of folate and folate metabolites floating through your bloodstream at that moment in time. And that's not really the information we need. We don't really just need how much of those metabolites are floating through your bloodstream. What we want to know is how well is your body able to use the folate. And that's a completely different test that most doctors do not order. I find every day looking at people's results that this test is not being ordered. If we don't order the right test, we're not going to get the right information. But the reason it's not ordered is because most practitioners are not aware they haven't learned it wasn't part of their training. This identification of the MTHVR gene is relatively recent. I started learning about it and researching it, I would say, in 2013, even though that's almost a decade ago now. It's not been fully integrated into medical schools, medical training, and certainly practitioners who've been in practice for a long time may or may not have learned much about it. At this point. Your practitioner may be aware of the MTHFR gene, but they probably are not aware of doing the homocysteine test in order to evaluate your body's ability to use methylfolate. So you may need to be asking for that test called homocysteine. H O M O C Y S T E I N E and if anything you take from this, I just really hope you more and more people start asking their doctors to measure homocysteine in their annual blood work at the very least, or if you find out that you have the MTHFR gene, to me, the very next step you should take is to have your homocysteine level measured. Because here's another confusion that happens most. As I mentioned, most practitioners are not testing for MTHFR or treating it. If you happen to get your MTHFR tested now, this could be because some doctors will order it through blood work. This could be because I'm seeing more and more psychiatrists doing a genetic test called Geno Mind or different kinds of genetic tests related to psychiatric issues, let's say anxiety, depression. They will run a genetic panel to determine how well certain medications may work for you based on your genetics. I'm glad they're doing that test because at least they're doing some sort of test to identify a better medication for your situation. However, on that test, it usually tests for mthfr and the doctors are not trained how to address it. So they might tell you you have MTHFR gene, then leave you hanging with that. Also, sometimes MTHFR is tested by fertility specialists because it is, I find, and some practitioners find, related to fertility and fertility issues. Sometimes that's how people find out they have mthfr is because they are working on fertility and they're tested for mthfr. Then they, the doctor says you have it and they, once you find out you have it, the doctor either will say nothing, like they don't know what to do about it, so they might just tell you you have it and leave you hanging. Or a lot of times what happens is they tell you you have mth of our gene variation and then they just give you a really high dose of folate. And to me, this is completely the wrong thing to do. I would never just automatically give a person 10 milligra or 15 milligrams of folate after finding out they have an MTHFR gene variation. And that's because.
The dosing has to be individualized. So a lot of times practitioners think, oh, well, if a person has this gene variation, they must need a whole lot of folate in order to fix it, and so they go for the highest dose. Also, prescription folate exists in high doses, so they tend to give a prescription and it's going to usually be 10 to 15 milligrams. And for a high percentage of people, that's way too much. And what happens when you take too much methylfolate? It can aggravate the same symptoms you're trying to solve. Now, here's the thing I want to mention the top most common symptoms that, that make it where a person should consider mthfr and like in where you might have already been on the path to finding out about mthfr. So I mentioned this a little bit already, but anxiety is one of the top ones because a person who has high anxiety or depression might be going to that psychiatrist and before they get prescribed an antidepressant, they might do a genetic panel and find out about mthfr.
That's not every psychiatrist, by the way. Only if you go to a Psychiatrist who's trained in genomics in looking at genes. It's also common with fertility issues. Although most gynecologists do not test for it and the research is not clear, is still not clear about it. It's not become standard of care. It's not something you're going to have done on your regular blood work likely or the regular gynecologist only if you go to someone who specializes in genet then they may do MTHFR related to fertility. I definitely think these are the areas anxiety, depression, fertility are really good reasons to find out if you have mthfr. Also, another issue that I help with a lot is abnormal Pap smears and risk for cervical cancer caused by hpv. In this situation what's happening is most all of us are exposed to this virus called hpv. At a certain percentage of us, it can increase risk of cancer whether on the cervix for women, vaginal cells, it can happen rectal cells or oral cancer caused by hpv. Here's the thing is we see that one of the factors that increases your risk of cancer caused by HPV is MTHFR gene and not having enough of active folate. So this is not an area that normally is getting tested, but it's an area that I am paying attention and I'm always addressing methylfolate with my patients who have abnormal Pap smears.
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Another.
Area is fatigue and migraines which are two of the health issues that I struggled with for many years and I believe that was part of my history of MTHFR gene variation was that it was predisposing me to Migraines and also fatigue. And so if you're really going down this path of migraines and potentially chronic fatigue, you might then find out that you have mthfr. And if not, I'm encouraging you to check for it because then we can take the steps to address it fully. Here's the other confusion when it comes to MTHFR is what I observe is that it's not addressed fully or comprehensively. Again, some practitioners, they find out you have MTHFR and then they just give you folate. Now, there's something correct about that because whenever I find that someone has MTHFR gene variation, and I say this to even people who don't know, even if you don't know whether you have mthfr, I would still look at your multivitamin, look at your B complex, look at your prenatal, look at your anything that has B vitamins in it that you might be taking. And if it says folic acid, I would replace it. I would throw it out and replace it. Here's why. Folic acid is an inactive form of the nutrient. Your body has to do more work in order to even be able to use it, even if you don't have an MTHFR gene variation. You see what I mean? And the reality is that about 40% of us have at least one gene variation. That's a high percentage. At least 40% of us need to be thinking about this. And at least 40% of us have a lesser ability to use folic acid, right? So if you're going to take a nutrient and you might be between 30 and 70% less able to use that nutrient, then what's the point? You're wasting money on a version of a nutrient that your body can barely use, when instead you could buy a multi or a B complex or a prenatal that has active form of folate in it that a company that made sure that they're using, it's going to say either methylfolate5mthf, sometimes even if it says calcium folinate, or, you know, then at least you're more likely to be able to use that folate than you are folic acid. So anyone listening to this, whether you have MTHFR gene variation or not, please, you know, might as well ditch the folic acid and switch to methylfolate because we can all benefit from using active nutrients, right? That's the whole point of swallowing the multivitamin is to give you better access to nutrients. So you might as well get one that has active nutrients. In it, and especially if you have either 1 or 2 mthfr gene variations, then you're going to want to get methylfolate in your supplements. So this I agree with, I agree with the concept of getting methylfolate. The part that I think is getting overlooked is identifying your individual dose because it's not one size fits all. It's not a cookie cutter. Everybody needs 5 milligrams or everybody needs 15 milligrams. And it's not even that everybody needs 1 milligram. It varies from person to person. And here's the thing that I think that we really miss is that our ability to use folate, even if you're swallowing active folate, our ability to use folate is completely influenced by, by variables in our body, in our environment. The biggest one is stress exposure. So if we're exposed to stress, and we all are, right? And if we have imbalanced cortisol and adrenaline levels because of our exposure to stress, which I would say many, many people have, unless they've been working on addressing it, many of us have imbalanced cortisol or adrenaline levels, right? It's either too high or too low at different times a day that's going to influence your ability to use folate. So you're swallowing it, but how well is your body using it?
Whether it's psycho emotional stress, physical stress and infection, exposure to toxins, whether that's pesticides, mold toxins or other kinds of toxins in your environment, those all affect your ability to address, to use folate. Also imbalance in your gut biome. So if we know we have all these good bacteria living on our gut and we always hear about how good it is to feed them and swallow probiotics. But what if there's an imbalance in your bacteria? What if there's too much of one and not enough of another? That's going to affect your ability to use folate effectively. Also, if you have leaky gut and food sensitivities, if you have inflammation from any source, although the biggest source is often from the digestion. If you have, again, an infection, if you have a nutrient deficiency, if you have electrolyte deficiency, all of these are factors in terms of your ability to use folate. So I use the analogy of a sink with a clogged drain. Okay? So let's imagine if you have this sink and it has a drain completely clogged up, the drain is clogged with all these different stress, as I just mentioned, life stress, inflammatory stress, all of that is clogging the drain of the sink and you go and just turn on the faucet, which is equivalent of swallowing a whole bunch of methyl folate. You turn on the faucet, but where's the water going to go? It's not going to go down the drain, which is what would be needed for things to flow through your metabolism. Instead, the sink is going to overflow and you're going to get headaches, anxiety and feeling worse. Fatigue, you name it all feels worse because the claw, the drain is clogged. It doesn't matter if you take a whole bunch of folate. If the drain is clogged, it's not going to go anywhere. It's going to make you likely feel worse. Okay? So please don't do that to yourselves. Or if you started taking methylfolate and you're feeling worse, then stop. And let's go back to the beginning and figure out how we need to do this step by step.
So that you not only are getting the right kind of folate, but your body's able to use it and you're getting the right amount for your body. And here's the magical thing that I see happen is when we address your stress, when we heal your gut, when we balance your gut biome, eliminate the toxins, eliminate the food sensitivities, re establish healthy nutrient levels, get your nutrients back on track. When we do that, your body already starts using folate better on its own, even without adding more. So I all the time see patients who have. We're back to the homocysteine. Remember how I said you got to get your homocysteine checked? Let's say you have your homocysteine checked and the numbers way up high, 15, 30, 55, it can go way up high. And that tells us you're not using the folate effectively. So then you're tempted to take a whole bunch of folate and the doctor will tell you, take a bunch of folate. But I'm going to tell you, no, that's not the way to start. We have to understand that the drain is clogged. We have to unclog it. As we unclog the drain, your body will start using folate, even from your food better. And that homocysteine starts to come down sometimes that's all we need to bring it back into normal range, which optimally, we want it at a seven.
Then we don't even have to add extra folate. And we're actually helping your body heal. And by helping your body heal, it Starts using folate better again on its own. The other important thing to know about homocysteine and the use of folate is it's not folate working by itself. This is another point of confusion. Everybody's putting all the focus on the folate. Even to this point in this conversation, I've been putting all the focus on the folate. It's not folate acting by itself. It doesn't do anything by itself. It needs B12 for one. It has to be that the methylfolate comes together with the methyl B12. If you don't have also access to methyl B12. Now notice I'm also saying methyl B12, not cyano cobalamin, not the inactive form of B12. And you might also have, by the way, a gene variation on your ability to activate B12. This is where it gets complicated. It's not just about getting to methylfolate. That's just one step. Now we also need methylcobalamin or methyl B12 at the right amount. So they come together and start making something called SAM s adenosylmethionine or sometimes we in a supplement you might buy it as same.
Is really kind of a shortcut because it's instead of getting methylfolate and methyl B12 to make SAM or SAMI for you, you're just skipping to taking the SAMI which is okay. There's studies that show that can be effective. But I still wouldn't start there because it can make things worse. Just like the methyl folate, it might be like turning on the faucet once again with using same and there's a clogged drain and so it can't get anywhere and it starts causing backups and symptoms making you feel worse. So I wouldn't just start with Sami either. I would first get everything flowing. Then we can find the right amount of methylfolate and methyl B12 for you. And likely we don't need to take same because your body's going to do it on its own. That's our goal. Now it's also not just about folate and methyl B12. There's all the other B vitamins involved. They all work together. In fact, what's called the methylation cycle, I call it the B vitamins cycle, which is how all the B vitamins work together to make Sam so there's B1 involved, B2, B6, B5, you name it, all these B vitamins are involved. And that's why often when you take a B vitamin, you're going to take a B complex or a multivitamin is going to have all the B vitamins together because they all need each other in order to do their work and to do what they need to do in our bodies. So it's not just about taking folate, we need all the other B vitamins there too in order for it to work right. Plus we also need a bunch of other minerals like zinc and magnesium. And so it's not just a simple solution. If this is an issue for you, if you're experiencing severe fatigue, anxiety, depression, if you're having fertility issues, or even if you're having.
Abnormal paps that are not resolving, then I encourage you to take a breath and realize that it's not a quick fix. It needs to be thought out. It needs to be looked at comprehensively in order to really help solve this for you. That's what I do when I work with patients, one on one. I guide them through this step by step process of understanding. Do they have mthfr? How is it being affected in their body? What do we need to address to unclog the drain? What other nutrients are necessary? How to add in and find the right dose of methylfolate and these other nutrients for your body and then how to maintain over time. Because research also shows that MTHFR is associated with heart disease risk, diabetes risk, cancer risk and dementia risk. So it's worth it to figure this out so that you can be preventing all kinds of health issues. Of course we know B vitamins are important, we know B vitamins help us with stress, but it's not as simple as just taking the cheapest, most accessible B vitamin on the shelf. It really needs to be fine tuned to get the most out of it. So this is why I wanted to bring your attention to all of this and to also let you know that I have a masterclass. It's a free masterclass that I teach about MTHFR and I'd love for you to. If you're wanting to learn more and understand more about this, I encourage you to sign up. I'll share the link below so that you can learn more about MTHFR and what to do about it. Thanks so much for joining me today and I look forward to your questions and comments and to having you join me at the next episode. And please, if you haven't already, subscribe to this podcast and definitely send me a review. I'd love to hear from you. Take care.
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