What Is MTHFR, and Does the Gene Variant Actually Mean Anything for Your Health?

[0:00] If you have a copy of the MTHFR SNP, you get your genetic testing done and you find that there's something different, what might you feel or what might you have been experiencing as a result of that? You experience brain fog and tiredness, and a lot of times people get very, very irritable.

[0:19] They also have anxiety, panic attacks. Your stress hormones just stay really high. You can also have some vascular issues, some blood pressure issues. Health and wellness is confusing. There's a new trend every week. Everyone's got an opinion, and half the time you can't tell what's legit and what's just good marketing.

[0:39] And we get it, we're in it too. Welcome to Dialed In Health. I'm Melissa Goodwin. Every episode we bring in the people who actually do this work, providers, practitioners, the experts who seek clients and patients every day. We ask the questions you'd ask if you were sitting across from them so you can find the right people, make better decisions, and feel confident about what's out there.

[0:58] Whether it's peptides, gut health, water quality, ADHD, biohacking, or something you've never heard of, we're covering it. So let's get into it. Let's get Dialed In. Welcome to Dialed In Health. I am so excited for today's episode for a number of reasons. When I started this podcast, I asked a number of people, I put out polls on LinkedIn and Facebook and all the channels, and I said, "What are the things "you wanna know the most about?"

[1:28] And this is one of the topics that I get over and over again, especially over the last few months, people say, "When are you gonna have somebody "come on and talk about MTHFR?" So I'm very excited today. I found Kristine Cassar through Facebook, through a Facebook group, and you were one of the people, everyone kept coming to you for questions.

[1:50] So I'm so excited to have you on the show. You are the owner and operator of BeeWell Functional Wellness. From In the Woodlands, Texas. And you also have an online and virtual practice as well. So Kristine, welcome to the show. I'm so excited to have you here.

[2:08] Thank you so much. I am really excited to be here today. MTHFR is something near and dear to my heart, and a whole lot of people have a whole lot of questions about it. (Kristine laughs) They do. So tell us a little bit first about BeeWell Functional Wellness, the work that you guys do, and who you treat, who comes to you.

[2:30] I know you have a virtual practice as well. Yeah, so I in the early 90s got very interested in functional medicine. Due to some family issues, my daughter had some issues and it's just a really, really wonderful way that people can be healthy and instead of waiting to get sick and go to a doctor that can only spend 12 minutes with you because of the way our medical system is, we actually do a deep dive into someone's physiology, their health, and help them to optimize everything about their life. We've had this practice

[3:15] and we've helped hundreds of people. We have people that come into our brick and mortar. They do testing, lab work, anything that they might need to optimize. And then our online and virtual practice, we have the ability to do pretty much the same thing, just a little more no big touch points that we have with our brick and mortar.

[3:44] So for those who are not familiar with MTHFR, now we started hearing a lot more about it when genetic testing became more and more prevalent. And it's something that's pretty common. So maybe if you can share with us a little bit about what is MTHFR, what does it stand for and what does it do?

[4:04] Okay, so MTHFR is methyl tetrahydrofolate reductase. It's a mouthful. So we generally just call it MTHFR. It is actually the pathway for your body to take your folate and your B vitamins and change them into bioavailable products that your cells can use to detoxify, to turn on different genes in your body to say you need to produce different chemicals in your brain, serotonin, dopamine, things like that.

[4:49] It works for that. It also helps you with your energy, with your production of things that turn the stress hormones off and clears out your biological pathways. So that you don't get bogged down. So what might that mean in real life? If you have this MTHFR, is it a gene?

[5:18] I call them, it's not a mutation. Well, it is a mutation. But when people think mutation, they think, "Oh gosh, disease, bad things." There's something wrong, right. Yeah, there's something wrong. I actually think it's easier to think of it as just a little gene snip that it acts differently than some others act.

[5:41] But it's definitely not a horrible, horrible thing. The Thousand Genomes Project did studies on it and found that 40 to 50% of all people are heterozygous carriers of one of these snips. And they just slow down your methylation pathways a little bit. Okay. So you either have MTHFR, if you would do a genetic test, you either have it or you don't.

[6:14] Is that right? Well, everyone has MTHFR. But the snips, the gene snips that are the different expressions in the gene, 40 to 50% of people carry one copy of these. And 10 to 12% of people carry two copies, one from each of their parents. Now, if you carry one copy, generally about 30% of your methylation cycle, it's 30% slower.

[6:45] If you carry both, it can be up to 70% slower. And this was found in the One Thousand Genomes Project also. If you have a copy of the MTHFR snip, you get your genetic testing done and you find that there's something different. What might you, before we go into the science and dig into that, what might you feel or what might you have been experiencing that is a result of that?

[7:08] Yeah. So you experience brain fog and tiredness. And you, a lot of times people get very, very irritable. They also have anxiety, panic attacks. Your stress hormones just stay really high. You can also have some vascular issues, some blood pressure issues. Okay. You described me just to a T, except for the vascular issues.

[7:38] I'm always foggy and irritable. I'm not sure if it's the MTHFR. So tell me, in terms of, we talk about methylation, or I hear a lot about, if you go to the supplement store you'll see methylated B. Tell us about what is methylation, why we should care, what does it mean, what is it?

[8:01] Okay. So methylation is the process that when you take in folate from your food or from vitamins, it, the methylation process actually adds little chemical tags to the methyl process, to each of these little things. And then these tags turn on and off gene expressions. They help your body to actually reduce different toxins.

[8:31] They keep your pathways open. They actually allow you to uptake your vitamins. And then it also can help turn on the parts of your brain that produce your serotonin, your dopamine, all of those good chemicals that we need to be happy and healthy. Okay. So if I were, and people get genetic testing for a number of reasons, whether you have a surgery or all kinds of things, if I find out, and I've not experienced anything, but I find have this MTHFR SNP or mutation or defect or whatever you want to

[9:11] call that, and I'm just joking on the defect. So should, what do you do? What do you do about that? So if you have gotten genetic testing and you see that you got the SNPs, and there are two different SNPs that are the ones that we look at, which are the C677T and also the A1298.

[9:35] So these, if you find you've got these SNPs, but you actually feel good, you don't do anything about it. Our bodies are wonderful. They figure out how to get around things and work. But if you do have symptoms, if you find that you have mood swings, you're irritable, you have anxiety, or you have heavy brain fog, those symptoms can mean you need further testing.

[10:05] Generally, we do some blood testing that look at different markers that tell us if your methylation system is working correctly. If these blood markers come back and it's not working correctly, then your system needs a little support. Okay. So tell us a little bit, like how common is it, you mentioned there's one or two copies that you might carry.

[10:32] How common is it to have a copy? And how different are those two scenarios? If I have one copy or two copies, is it more severe if I have two? So yes. So one copy just means that you've gotten one copy of this gene SNP from a parent.

[10:56] If you have two copies, you've gotten both from each parent, you've gotten one from one, one from the other. And it generally means that you have a reduction of up to 70% in your methylation cycle, which can mean you get bogged down. It's not working as well as someone with one copy or with no copy at all.

[11:24] Like I said before, there are a lot of people that actually have two copies of the gene SNP, and they are just fine. Their body has figured out how to process, even though it's processing slowly. And so it's going to be based upon your symptoms. So I have a, one of the reasons I really wanted to have you as an expert of MTHFR on the show is I see a lot of conversations around this topic that, whether it's autism, whether it's menopause, whether it's energy, depression, all a whole host of things, right?

[12:10] And so help us understand some fact from fiction. What can a copy or a double copy, what can that lead to if untreated or if it is causing issues? What are some things that you have found as a practitioner in this space? So it doesn't lead to disease.

[12:36] What it does do is it leads to your body not working as well as it should. And if you have a propensity towards a disease that methylation may affect, then it can cause your things to show up harsher and be a little more acute. It does affect a lot of different processes.

[13:10] It really does affect mood and psychological, psychiatry, different things like that. It also, you hear a lot of the talk in the autism communities. Methylation is very, very important for everyone. And, you know, with autism, we haven't figured out exactly how it expresses. It doesn't cause autism, but it can make an autistic child a little more reactive.

[13:55] So we definitely want to make sure an autistic child or an autistic person is methylating correctly. So it may not necessarily cause issues, but it can exacerbate. It does. Yeah, that's the main thing. I don't want people to think, oh, I've got this. It's going to cause a disease because it does not cause disease.

[14:18] Okay. So tell me a little bit about why you were so interested in this as a topic. What brought you into specializing in this space? Yeah. So in 1997, my daughter was two and she had some significant health issues. And her regular medical doctors were not really helping us.

[14:45] So I started interviewing and talking and researching other functional medicine practitioners and doctors who were kind of out of the box. And I had one specific doctor that told me, hey, you know, I know genetic testing is expensive, but there is some evidence right now that there is this one gene that affects certain people.

[15:14] Why don't you go get her tested? I got her tested. She ended up being a homozygous carrier, which means I gave her a gene and her father gave her a gene. And once we had her tested and figured out that her methylation pathways were completely stopped up, we then actually started giving her good folate in food and methyl folate.

[15:44] And her symptoms really changed. She got a whole lot better. And then I decided, well, I want to get tested because I was having some issues myself, especially when I would take vitamins. I would not feel that great. So I got tested and found out that I'm a homozygous carrier also.

[16:07] I carry two snips. So my understanding, my very limited understanding was, you know, if you have the MTHFR, if you have this copy or copies, you need to go to the store, get a methylated B vitamin, and you're good. Tell me what's wrong or right about that.

[16:30] Okay. So there are different things. Like I've said before, if you don't feel any of these symptoms, then you don't need to go get a methylated B vitamin. Obviously, you're doing the work with your food intake and you don't have to worry about that. And also, if people take methylated B vitamins without the direction of someone who actually knows the system, they can over-methylate, which causes your stress hormones to go into fight or flight.

[17:03] And you literally will have anxiety attacks, insomnia, all of those things. So we generally, when someone has symptoms and they come to us, we start them on a very low dose and then we can titer up till we find their sweet spot. Okay. So I had not heard about over-methylating.

[17:27] So, okay. So what happens if you over-methylate? Like I said, your body goes into fight or flight because you're flooding your body with this bioavailable folate that then you've got too much in the system and it starts spiking your brain chemicals. You can have insomnia. You can have restless leg syndrome.

[17:54] You get really irritable. You have to get to the right amount of methylated folate. So you just start small and you move up until your symptoms, they disappear, but you're not feeling anxious. Got it. Okay. So when people come to see you, what do they tip, what are some of the common reasons they come to see you and, you know, as it relates to MTHFR?

[18:26] Generally, people do not come to me and say MTHFR snip and anxiety or stress or anything like that. But we found that when people come in and they have the brain fog and they have reactions to vitamins, they just don't feel well. Generally, most of those people also have anxiety and irritability and all of those things.

[18:56] They just don't put two and two together. Right. So, you know, and I think part of the reason why I started this show is traditional medicine can sometimes, you know, they have a very specific lane and if you're sick and you break an arm, absolutely go to the doctor.

[19:14] But in cases like these, it can be, you know, there's nuance and I just, you know, like, for instance, the American College of Medical Genetics says there's not enough evidence for MTHFR testing and yet functional medicine tests for it all the time. So, you know, where do you land and tell us a little bit about your experience from that perspective?

[19:36] Yeah. I do think that a lot of functional medicine practitioners over test. To me, I feel like the only reason that you test is if someone has symptoms that you cannot, like, figure out for with just food and stress reduction and sleep and things like that.

[20:03] So, I do think that a lot of times people are being over tested, but I also think that in regular medicine, the way that our medical system works right now, they don't test enough. They, it's generally when you're sick, they're going to handle something. They will give you a prescription.

[20:27] If you've broken a leg, they'll, you know, they'll do what they need to do then. But based on the fact that most medical nowadays is kind of run by insurance companies, they don't have enough time in those 12 to 15 minutes to actually get down deep down.

[20:48] So, they generally just say, no, we don't need any testing. Your lab work right now, it looks fine. What they aren't explaining is that lab work that you get in a regular medical office when it says, oh, you're in range. You're in range with all the other sick people who are doing lab work.

[21:09] You're not in range with optimum levels. So, when someone comes in, I don't automatically test for an MTHFR snip. What I do test for is I do blood work. And if the blood work is showing me that the folate is not being absorbed, that the B vitamins are out of whack, if the homocysteine is way high, that's when I will generally say to someone, hey, this might be something that we want to test for, because all of your other labs are kind of showing that you're having a methylation problem.

[21:53] Sure. Okay. So, you're not necessarily saying everybody should run out and get tested for MTHFR? No. Okay. So, what kind of test, if you feel like this is something that you need, if somebody who's listening or watching right now wants to get tested, what kind of test would they ask for or get?

[22:12] Yeah. So, there's something as simple as you could go to LabCorp or Quest and get a blood test. They do do some of those blood tests. And you can get a genetic test through any of these labs also. Testing usually runs from $50 to $200. When you come to me, my testing runs about $250, because I don't just test for the MTHFR SNPs. There are a whole bunch of other genes, gene SNPs, that also have an effect on your methylation system. So, I test for a whole lot more, but you can get MTHFR for the testing for

[22:58] the SNP, just at LabCorp or Quest for like $50. So, when you go into... And I'd love to just talk really quickly about pregnancy, because that's this time when everyone tells you to take folic acid. And then you just... They don't even really tell you a dosage.

[23:18] They just say, "Go grab a multivitamin, go to your local Walgreens or wherever, and grab it and take that." So, I'm curious, what advice would you have for women of childbearing years? So, first off, I don't like folic acid. Folic acid is a chemical compound that is not bioavailable. So, when you take it, your body has to work extra hard to turn it into something that it can use in the methylation process. What I do recommend for everyone, especially women of childbearing age or women who are pregnant, is you want to get your folate

[24:03] as much as you can from food sources. So, that would be dark leafy greens, asparagus, eggs. Eggs are amazing. And also, beef liver. If you are not getting enough folate from your food sources, then you look for a multivitamin that has methyl folate. You don't want to go with folic acid. I know that they add it to bread, they add it to pasta, but it really... It can really not work at all for people with these gene snips. And as a matter of fact, it can actually cause more problems with people in these gene

[24:48] snips because it slows you down even more. Okay. So, and then there's dosage changes as well. So, there's folic acid. If you walk into a supplement store, GNC, Walgreens, wherever, you've got folic acid, folate, methyl folate. How does someone know that... What is the difference? You mentioned folic acid is the compound, chemical compound. Right. It's a chemical compound. So, that's what folic acid is. Folate is natural bioavailable. So, it's from your food sources, like I said, eggs, beef liver, dark leafy greens, asparagus, things like that. And methyl folate is the folate that has

[25:38] been fully bio-identical. So, your body, it's immediately available to your body to use. So, if someone's going into a supplement store and they're looking on the back of a vitamin, what they want to look for is L-5-MTHF. So, that is a methyltetrahydrofolate. That is a bio-identical. It's bioavailable. It is easily for anyone, people with these gene snips, people without. And they want to look for methylcobalamin, which is also something that is highly bioavailable and it keeps your homocysteine level down.

[26:26] So, say that again, just for the people in the back. The L-5... L-5-MTHF is L-5-methyltetrahydrofolate. And that is the bioavailable folate, the methyl folate. And then you want methylcobalamin, which is the methylated form that helps you to keep your homocysteine low. And you said those coexist on one supplement.

[27:05] Yes. They should because... So, one is working with folate. The other is working with vitamin B12. And folate without vitamin B12, it doesn't work. It's like they're hand in hand. So, got it. Okay. I was going to ask you about B12. So, that's helpful. You mentioned homocysteine a couple of times. What is that? Why do you keep mentioning that? So, homocysteine is an amino acid and it works as like a dipstick to tell you how your methylation process is working. So, we want our homocysteine levels to be low. If they are raised

[27:52] high, that means there's protein, extra protein floating around and your methylation system is backed up. You are not detoxing. Your pathways are kind of stopped up. So, generally, most labs will say homocysteine level in between 14 and 15 is normal. But in functional medicine, no. That's actually really high. We want it low.

[28:19] And a lot of functional medicine practitioners will say in between 6 and 8. I like mine 6 or a little bit below 6 because that's telling me that my B vitamins and my methylation system is working the way it's supposed to. I see a lot of liposomal versus pills versus sublingual.

[28:46] So, that's where people get, I mean, for me, I get confused. But I'm like, well, not only do I need this supplement, but now I have to determine how hopefully your labs tell you how much or your provider can help guide you with the dosage. But do I need liposomal? Do I need sublingual? Do I need pill? What's the difference? Does it matter? You know, it can matter. I personally like liposomal is it your body uptakes it without having to worry about your gut acid breaking it down.

[29:24] But a really good quality supplement, you use it still works just fine. Liposomal is actually it's a little more expensive. So I tell my clients, you're fine with a good quality supplement. We will test your blood after you've been on it for like 30 days. And then if it seems like we need to up your supplement, then I might talk to you about liposomal.

[29:56] Okay, so it does sound good, though. It's got kind of good range. So what's the most common mistake you see after someone finds out they have a variant? What is the thing that you see everybody running out and doing? And if you would just be like, hey, hold up, don't do that.

[30:14] Running out and getting a methyl folate, methylated B vitamins and then just taking them based on what the bottle says, like take two capsules or whatever, and not really figuring out what your body needs. You know, stressing just because you found out you have this. If you are not feeling the symptoms or your symptoms are not acute, you don't want to just run out and freak out. Yeah, I see so many people on Facebook or on Instagram that are just, it's almost like they're hyping themselves up and saying, oh my gosh, my life is almost over

[31:00] because I have this horrible thing. And it really is not something that you need to hyper focus on. Okay, so what do you think in all those rabbit holes on the internet? What are the things that see people getting wrong over and over again? Do you correct them?

[31:19] You know, I try not to because then it starts internet fights and I really don't like those. What I do is I try to educate in these forums and let people know that having these gene snips is not a life sentence that if you are experiencing different symptoms, they can be very easily controlled with the correct dosage of methyl folate. And it's not something that you have to panic about. It is something that you can address and then just go on and lead a happy healthy life.

[32:02] So what would you say on the other side of that coin? What would you say to someone who says it's not really that big of a deal. It's all pseudoscience. Don't waste your money. Don't go down that path. You know, I meet people like this all the time that actually think any functional medicine practitioner is just someone who wants to prescribe 50 million supplements and make $500 a month off of you off of supplements.

[32:32] And those people, I just tell them that there, I mean, there have been studies for a long, long time on the methylation pathways. This is a very studied, these gene snips have been very studied. It is not pseudoscience. It's something that is very beneficial to certain people, but that not everyone needs the support. So if someone were to call you, what does working with you look like? What happens in the first, you know, visit in the first few months of kind of understanding their bodies and how to optimize it? Yeah. So your first

[33:14] visit, if you're coming into our office, we sit you down. I actually talk to you for like an hour. We do a functional workup that it's not just, Hey, let me tell me your family history of cancer or heart disease. It literally goes into when your mother was carrying you and your, the childbirth.

[33:38] And if you had sickness as a child, if you took some antibiotics as a child, we go through all of these things to see what might trigger events in your gut and in your body. We then will figure out if you need to have blood work done, if you need functional lab work done. And then we start on how you actually treat your body. You know, do you have a healthy lifestyle? Do you eat healthy?

[34:13] Do you sleep well? Things like that. And then over the course of getting some lab work in, we then go over the lab work, do a in-depth deep dive. I do a report that's usually about 60 pages that I give to clients. And then we together decide on a plan of action, whether it's, Hey, we need to change up your diet or we need to make your circadian rhythm come more in line, or you need to take some supplements. Then over the next three to six months, we have high touch point

[34:55] where you, we actually talk to you almost weekly and see how things are going, how you're feeling, see if we need to adjust supplementation, adjust your nutrition, adjust your sleep, just to try and get you into optimal ranges so that you actually live longer and live healthier. So if somebody is watching this and you were to characterize like, this is the person that should call me tomorrow. This is the person that needs to see me. Who would that person be? What are the characteristics?

[35:32] The character is someone who like looks at their health and thinks, this is something that I'm going to work on for the rest of my life. This is something that is really important to me. I want to be happy and vibrant and healthy into my eighties, nineties, hundreds. It's not for someone who says, I want to take a pill and everything works out. I want to just do one and done and I'm going to be cured because that's not how our bodies work. That's not how your health works. You know, in

[36:10] every stage of life, our changes in how it methylates, how it expresses your genes, how you get your amino [?] acids, how so many things change in your body over time. So your your health journey is not just, okay, I'm taking this vitamin, this supplement, and I'll take it the rest of my life and everything will be great. You need to actually work with your body through different stages. Why is this work important to you? You know, I am a lifelong athlete. I'm a really like, I love tennis. I love any

[36:58] athletic sport and I just want to be healthy and be able to play my sport and watch my grandchildren and great grandchildren run around with them for a long, long time. And I've been in a situation before where I did not take care of my health and I realized that that it doesn't just affect your body, it affects your mind, it affects your mind. And I just love the way I feel when I am feeling good.

[37:44] No, oh my gosh, okay, so Number one is sleep. I mean I protect my sleep like you would not believe you have got to sleep Solid like once you get to my age, which is in your 50s You need a solid seven seven and a half eight hours at night. I Make sure I go to bed at the same time. I wake up at the same time within 10 minutes of waking up I go outside and I get sunlight which resets my circadian rhythm and it kind of tells my body

[38:21] Exactly what it should be doing when it should be doing it. I Make sure that I eat healthy. I take all of my supplements because I am a double homozygous carrier of Mthfr and I do have symptoms when I don't Take my supplements. I am very good about taking my supplements.

[38:45] My regimen is very strict I eat as healthy as I can now I'm in the real world and I have friends that we go out to eat. So every once in a while I won't eat great, but I generally check everything I put into my body. I I love exercise every single day and It can be as simple as Taking a walk Sometimes if I'm really busy and I'm reading Patient files I will sit there with dumbbells and just do this. I make sure that I walk At least 10 minutes after each meal

[39:28] whether it's walking around my house pushing a vacuum things like that very simple to do and nighttime I make sure that I stop screen time at least two hours before I go to bed and For some people that's really hard those people I recommend red light glasses That you just wear to cut down the blue light from your screen This is great I want to ask you one final question if you had a billboard that you could put up that everyone would see And we'll keep it to the topic that we

[40:03] were talking about today MTHFR. What might that billboard say? I Think the billboard would say MTHFR is not a disease It is just a gene in your body that helps you run your methylation process and if you have one of those gene snips and are Experiencing some of the symptoms. It's very easy to tackle and Support your body and get your methylation systems running correctly That's great. And it's so funny when I ask that question. Nobody gives me a billboard size answer Okay, it's not a disease that's the All right, so finally how can people get

[40:57] a hold of you where can they find you if they want to learn more or Connect with you Kristine. Yes, so BeeWellWoodlands.com and BeeWell is spelled like the little buzzing bee, so it's B E E W E ll woodlands dot com and You can also look for BeeWell Functional Wellness on Facebook and Instagram I also encourage people if you are questioning your supplements if you can take a picture Front and back of your supplements and DM me on my Instagram or my Facebook. I Will go ahead and give you a full rundown

[41:37] and let you know if that supplement is doing what you actually want it to do. I Love that. That's a great great way to check in to see if you're what you're taking works. So yes so much for that All right. Well, make sure to put those in the show notes So if you're watching on YouTube will put all of Kristine's links into the show description If you're listening you can always check out our website dialed in dot health and you can find all the information there as well as On YouTube. So thanks

[42:05] again. Thank you so much for Demystifying this topic. Like I said, I've had so many people ask me to cover this on the show So I'm just very very grateful that you're willing to give some of your time and and educate us all on MTHFR No problem. It was fun.

[42:22] Thanks so much. Thank you so much Hey, that's our show if someone came to mind while you were listening to this if you thought hey My sister needs to hear this or I should send this to my mom or my buddy would get a lot out of this Please share it with them. Just hit the share button and send it their way You never know what one conversation one episode or one piece of information can do for someone who's been looking for answers And if you haven't subscribed yet, please do it now. It takes two seconds. It's

[42:47] free and it means you won't miss an episode We've got incredible stuff coming up and I don't want you to miss any of it And if you're a health or wellness provider and you want to be on the show, we'd love to hear from you There's a link in the show notes to get in touch We're always looking for people doing interesting work We want to share what they know and one last thing I get asked all the time about the products and brands I actually use so I put together a list

[43:09] of sponsors and favorite products that have worked for me and my family if you're curious That link is in the show notes, too. Thank you for being here and I really mean that I'm Melissa Goodwin The line is open. See you next time