Skip to content

How to deal with Irregular Hormones and MTHFR [E029]

Learn what tests are available today so you can discover genes about yourself that may make your experience in life better. Dr. Olivia Joseph expresses how MTHFR and Irregular hormones can wreak havoc in your body and how some gene mutations we are unaware of could be causing symptoms in your body and ultimately what you can do about it!

Table Of Contents

Irregular Hormones: An Introduction

Irregular Hormones: An Introduction
Photographer: Alex Boyd | Source: Unsplash

Dr. Bryan: All right. Welcome back again, episode 29, Wellness Connection Show. I am Dr. Bryan Joseph, your host. I’m with my cohost, Dr. Jason Hamed.

Dr. Jason: Hey, everyone.

Dr. Bryan: And I’m with my wife, Dr. Olivia Joseph.

Dr. Olivia: Hello.

Dr. Bryan: Thank you for joining us again. We are going to pick your brain and actually see if we can’t share some of those smarts with some other people.

Dr. Olivia: Sounds good. I love this topic.

Dr. Bryan: Today’s topic is going to be on genes, and I’m not talking about Wranglers. I’m not talking about the buckle. I’m not talking about the denims. I’m talking about genetic issues. I’m talking about the genes that your great-great-great-great-grandparents have passed down through years and years and years. That’s the genes that you currently sit with, that you’re expressing this thing called life through. We’re going to talk about what are some things available today that are showing up, that are testable, that you could discover about yourself that may make your experience with life even better so that you don’t run into the same downfalls that those people that came before did.

MTHFR or Methylenetetrahydrofolate reductase

MTHFR or Methylenetetrahydrofolate reductase
Source: Wikipedia

Dr. Bryan: Let’s kick off. It’s funny. The initial discussion that we had before we got on air was around the most, I guess, one of the most common genetic disorders. I can’t even pronounce this, so I’m going to let Olivia actually share. What is this?

Dr. Olivia: It’s just letters. You just have to read the letters. It’s MTHFR.

Dr. Bryan: MTHFR. What does that stand for?

Dr. Olivia: Methylenetetrahydrofolate reductase, so that gene is responsible for converting folic acid to the usable form of methylfolate, which is a nutrient. It’s B9. It’s vitamin B9. It’s very, very, very important to your brain and nervous system. It’s super duper important to your cardiovascular system too.

Dr. Bryan: Genetic issues, a lot of times we’re not really … Let’s just go back up a few decades. The only time that we were really aware of genetic issues is probably when somebody came out with a disability of some sort or even an obvious genetic mutation in some sense. The level of interest ever since 23andMe has popped up and-

Dr. Bryan: … Ancestry, the level of interest on this topic has accelerated because even if we don’t have a gross disability or an observable disability or genetic mutation, almost all of us are imperfect beings. When I say imperfect beings, which means we have genetic abnormalities that you don’t see. But it’s those ones that we don’t see that sometimes can cause some destruction on the quality of our life and lead to problems later on, whether they be heart problems or stroke problems or other things.

Early mutations on MTHFR

Dr. Bryan: I think it’s so cool that in the world that we’re growing up in and our kids are growing up in is that science has now found ways to identify some of those mutations early so that we can find ways to support it. Can you start sharing a little bit about what you know on this topic?

Dr. Olivia: Sure. Sure. This is one that people are actually really educated on. I get a lot of very specific and very educated questions about MTHFR. Some are like, “What does it mean? What does it do?” Methylation is a pathway in which you absorb nutrients and it’s also a pathway in which you detox. Now obviously if you’re nutrient-deficient or you’re toxic, those are both bad things. Now, when you have a gene mutation it doesn’t mean the gene doesn’t work 100%. Depending on how many mutations you have, what combinations of mutations you have, your ability to do that one job, methylate, is decreased by a certain percentage.

Dr. Olivia: It’s not like a gene mutation is, “Oh my gosh. You’re screwed.” No. I mean, it depends on how much of the gene is mutated and what combination you have. The big thing with this gene mutation is it increases your risk for stroke, blood clot, dementia. It also increases your risk for a neural tube defect, spina bifida, cleft palate, tongue tie. It increases your risk for miscarriages or something called secondary infertility. We only hear about folate in two scenarios. You hear about folate as part of a prenatal nutrition program, and they also use folate in people with cognitive decline. But folate is something all of our brains need and all of our blood vessels need.

Effect of synthetic folic acid to someone with MTHFR

Dr. Jason: Let me talk on that for a moment just from a standpoint from the listeners’ sake. You mentioned that if everything’s working correctly, we have folic acid that is methylated and becomes methylfolate, which is B9, correct?

Dr. Olivia: Yes.

Dr. Jason: All right. So let’s say I have this gene mutation, this abnormally working gene. I’m not totally kaput, but something’s not working right. What happens to that folic acid that if I have the folic acid and I don’t have this gene, I’m not creating B9, what happens?

Dr. Olivia: Okay. Just to throw one more vitamin in the mix, B12. You actually need B12 to absorb B9. B12 is called cobalamin, which I’ll talk to you about in just a second. So Jay, I do not have MTHFR. So if I take folic acid, which is synthetic, that’s man-made vitamin. This is not nature or God-made. I take man-made vitamin, my body will have no issue turning that into methylfolate and then that folate can go to my brain and my cardiovascular system. It can go to my developing fetus. We’re good. I’m good.

Dr. Olivia: But if you have a gene mutation that doesn’t allow that process to take place efficiently, that synthetic nutrient is going to build up in your body, increasing inflammation in your cardiovascular system, in your brain, raising your homocysteine levels, increasing your risk for stroke, blood clot, dementia. You’re going to be nutrient-deficient even though you’re taking the supplement. The supplement is creating toxicity in you.

Homocysteine without gene mutation test

Dr. Jason: What is actually storing that’s causing that increased inflammation? What is the actual compound itself?

Dr. Olivia: Okay. Your body uses methylfolate or folate for homocysteine metabolism. Homocysteine, everybody can have this checked on a blood test. It’s not a good test for kids though, because it’s a marker of chronic inflammation within the brain and the cardiovascular system. So it’s rare that you’re going to see high homocysteine in a child, but you’ll see it in an adult. That is a marker of inflammation in your brain, in your carotid artery, in your blood vessels. It means your body isn’t methylating properly, which is increasing your risk for yucky things.

Dr. Jason: Okay. Just in recap on that, for those of you who are listening. If there’s a test that you would look at to see if you were methylating correctly, in the absence of knowing you had this gene problem, you want to test for homocysteine.

Dr. Olivia: I’ll check homocysteine without a gene mutation test because you can have this gene … You have have a heterozygous A1298C mutation which only shuts down methylation by 30%, so you’re still methylating at 70%. That person’s homocysteine levels might be normal, so who cares that they have the gene mutation? They’re methylating just fine. Or you can have no gene mutation and have high homocysteine. That’s still a problem. So genetic testing is valuable. I can talk more about the genetic testing itself and what other genes methylate other than MTHFR.

Dr. Bryan: A healthy body needs to be able to methylate properly?

Dr. Olivia: Yes. Any healthy body has to be able to absorb nutrients and remove toxins. These are two, nutritionally speaking, two of the most important processes that we need to function.

Infertility, Cognitive declines, and Stroke

Infertility, Cognitive declines, and Stroke
Photographer: Robina Weermeijer | Source: Unsplash

Dr. Bryan: That makes a lot of sense. When you talk about remove toxins or detoxify, why is that important? I know our body naturally does it in a lot of ways, but why is that so important that if your body can’t do it, what’s going to happen?

Dr. Olivia: Okay. With this specifically, inflammation in your brain and inflammation in your blood vessels and what that looks like is cognitive decline, stroke. What it looks like for women in their 20s and in their 30s that are in their fertile years is it often looks like miscarriage or secondary infertility, which is where you have no problem getting pregnant your first time. Because what you’ve been doing is you’ve been building up a savings account of folate your whole life. You’ve never made a withdrawal. Then you become pregnant. You overdraft that account, and you cannot get pregnant again. This is a big epidemic these days.

Dr. Olivia: We know the rates of infertility are going up. The rates of miscarriage are going up. And yet, we have more science and technology to improve fertility than ever before. Women used to be infertile because of anatomical issues, cysts, fibroids, endometriosis, a bad ovary, bad fallopian tubes. Now the biggest cause of infertility is a question mark. We don’t know why you’re infertile. You look fine. Your husband looks fine. We have to look at factors like toxicity. If your fetus can’t get folate, your baby’s brain and nervous system can’t develop. That’s what happens the first two weeks after conception before you even have a positive pregnancy test. So it’s a hugely important nutrient, really at every age.

When to get tested for homocysteine

Dr. Bryan: All right. Makes a lot of sense and that’s actually really, really good to hear. Now, what these tests like Ancestry or 23andMe are allowing us to do is have access to that information before we’re waiting for those destructive things to happen.

Dr. Olivia: Yes. What’s beneficial of a 23andMe or an Ancestry is there’s actually multiple genes involved in methylation, not just MTHFR.

Dr. Bryan: When do we want to get this tested? Is this something that every kid should get tested or-

Dr. Olivia: No. We run homocysteine on everybody when we run our comprehensive blood chem, not necessary for a child, definitely for an adult. For a kid I’d almost rather check gut health, B12 levels, folate levels, and test for the gene mutation. For an adult, I want to see how they’re methylating. Is this a chronic issue? Because it’s one we can start to improve in as little as three months. So it’s important to understand your genes are not your destiny. Genetics might load the gun, but it’s your lifestyle that pulls the trigger. This is not a new mutation. It’s been around for centuries.

Synthetic Nutrients are Poison

Synthetic Nutrients are Poison
Photographer: Alex Kondratiev | Source: Unsplash

Dr. Olivia: Why, all of a sudden, is it a problem? It’s a problem because people take vitamins. It’s a problem because we enrich food with vitamins. We started a process of refining foods a long, long time ago. What did that do? Strip nutrients from food. Then we see things like neural tube defect, spina bifida, go up and then we’re like, “Oh wait. Let’s do damage control and put folic acid in everything and our country won’t have as much spina bifida. We won’t have as much neural tube defect.” But what we did was we put synthetic nutrients in food and our body doesn’t know what to do with it if you have this mutation. It’s a toxin. Nutrients that are not nature-made, God-made, are not what we call bioavailable. They’re chemistry.

Dr. Olivia: What happens is when you put them in, your body has to turn that into something it can use or your body has to detoxify it, that simple.

Dr. Jason: If it can’t detoxify it, that’s when we run into problems.

Dr. Olivia: Yeah, because it accumulates in your body and-

Dr. Bryan: It manifests as inflammation.

Dr. Olivia: Absolutely.

Early symptoms of having irregular hormones

Dr. Jason: So let’s talk about that, because we’ve really talked a lot up to this point about end stage. You mentioned stroke. You mentioned infertility. You mentioned dementia. Openly, we won’t wish that upon anybody, but that appears to be more of an end stage issue. Is there any symptoms that someone may be experiencing before they get to these places where it’s a tragic loss of a child in utero or a stroke or they’re already in a stage of dementia? Is there things that you’ve recognized from a clinical presentation that people can become aware of and maybe start to investigate?

Dr. Olivia: There’s a connection between even autism, and we know how freaking high the autism rates are today compared to 15 years ago when we all started practicing together. You see children can be born not just with spina bifida but cleft palate, tongue tie, more and more common these days. It’s a midline defect. Women, yes, with miscarriage or secondary infertility. Those are some factors that you see. I mean, it affects your nervous system. One symptom you might see is brain fog, but I see so many other causes of brain fog. I don’t want to just blame brain fog on high homocysteine, but that’s a symptom that you’ll see too.

Dr. Bryan: What about energy and irregular hormones?

Little doses of cyanide in your body

Dr. Olivia: Okay. That’s a great question. Yes. Any time you have higher levels of inflammation, you’re going to have lower levels of energy because your body has to fight the inflammation and that’s an exhaustive process. That depletes energy. MTHFR is dependent on two nutrients, B12 and folate. Well, what do these energy drinks have?

Dr. Jason: B12.

Dr. Olivia: B12. What do we go to Walgreens and buy when we’re tired all the time?

Dr. Jason: 5-hour ENERGY.

Dr. Olivia: B12. Right. People are self-medicating with B12, but the problem is is they’re getting cyanocobalamin. Cyanocobalamin, I love this process. I love pathways and that’s why I love genetics, because it’s just a pathway. Cyanocobalamin converts to cyanide before it converts to methylcobalamin. Guys, what’s cyanide?

Dr. Bryan: Kills you.

Dr. Olivia: Poison. So if you have this gene mutation and you can’t methylate properly, you take synthetic B12 in these energy drinks, in these xyz pills, and you’re actually putting a little bit of poison in your body because your body can’t convert it to the good kind. When people take B12 shots, that’s cyanocobalamin. If you’re going to take B12, you want it to be methylcobalamin. That is the most bioavailable form that’s not potentially going to turn to poison in your body.

The Science Of Epigenetics

The Science Of Epigenetics
Photographer: Holger Link | Source: Unsplash

Dr. Bryan: It sounds like you’re sharing how people actually damage their bodies without knowing this information. Unknowingly they’re actually taking these pills or drinks and self-medicating themself and making themself worse. But let’s just say we found this information out and we have this deficiency. What’s available to us now to try to support this or make it better so that we could … Can we change our genes so that our kids or our grandkids have a different outcome irregular hormones? Or is it just supporting what we have available to us?

Dr. Olivia: Right. You’re not changing the gene. You can’t change the gene, but you can turn it on or turn it off. That’s the science of epigenetics. Our genes have a light switch on them, where you can turn them on and active them or you can turn them down and deactivate them. That’s the value of having genetic testing, not, “Oh my gosh. My genes are my destiny.” Uh-uh (negative). No. Knowledge is power. You can do something with this. Somebody with MTHFR, what do you want to do? You want to keep an eye on your homocysteine levels and you want them to be in the sweet spot, which is six to eight.

Dr. Olivia: When it’s high, no bueno. You’re not methylating properly. When it’s low, that’s actually not good because your body needs homocysteine to make glutathione. Glutathione, without a doubt, is the sexiest antioxidant that exists in your body. Your body makes it from homocysteine. If your homocysteine levels are actually too low because you’re over methylating, you’re not able to detox properly.

Getting checked for homocysteine

Dr. Bryan: How often should someone get checked for homocysteine?

Dr. Olivia: If we get those levels in the sweet spot, I like to look at them once a year in an adult. So once a year is how frequently I like to run a full blood panel. If you’re trying to bring them down, I’ll give you an example. I was working with a patient this morning. She’s 38 years old. She had struggled with infertility. Her primary chief complaint, chronic fatigue and brain fog. Her homocysteine came back as a 20. That’s really, really high. That’s over double what it should be. We were able to see those levels come down in three or four months time to the optimal range.

Dr. Olivia: If I’m trying to bring them down, I’ll check them every three to four months. But if they’re already in the sweet spot, just check them once a year.

The missing link to unexplained deaths

Dr. Jason: Based on what we have shared off our recording times, not just today, but in the past as well, and correct me if I’m wrong, Liv, this is, if you will, that possibly the unknown killer, if you will, for all those people that we hear about that it breaks our heart. The person who is apparently healthy, checked out fine at the last doctor’s appointment, fell asleep, and didn’t wake up. Or the guy who’s running ultra marathons or jacked beyond belief. He looks great, feels great, eating perfect, and then he dies. People are like, “How’d this happen because he was eating perfect and he just did a marathon last week?”

Dr. Jason: It’s like this is the missing link with regards to not understanding if that person’s body was storing this toxic substance because it couldn’t methylate properly and/or they were not checking their homocysteine levels. If everything I’ve heard is correct, is that what we’re on to right now?

Dr. Olivia: Yeah.

Dr. Olivia: Really specifically to stroke more than anything, to a stroke or blood clot, so not so much a heart attack. We look at a different inflammatory marker for heart attack risk, which is C-reactive protein, not related to this gene mutation. Homocysteine is strongly correlated to stroke risk.

Athlethes should be aware of inflammation

Dr. Jason: I would just advocate for those of you out there who obviously, as Dr. Bryan alluded to earlier, maybe if you have a family history of this, of stroke, cardiovascular incidents, even dementia, and let’s say you are an athlete and you think you’re impervious. This is definitely something that with Livia’s tutelage to me, I’ve definitely started to take a count of and making sure I watch that because, again, what you look like in the mirror, what your PRs are on a race day, don’t tell you the whole story of what’s going on with your arteries and your veins, especially when it comes to the arteries and veins around your brain irregular hormones.

Dr. Olivia: Well, and when it comes to athletes and performance athletes, it’s very important. When you put your body through that type of stress you have to be very conscious of inflammation because that inflammation has to attack somewhere. The meeting I just got pulled out of to come talk to you guys was specifically to sports nutrition, athletic performance. Really, the big problem is how much … The demographic that takes more vitamins than anybody else, it’s not us, guys. It’s not our patients. It’s athletes who are taking performance nutrition supplements.

Synthetic nutrients in nutrition formulas

Dr. Bryan: On that note, as a matter of fact, I was at the gym this morning. It’s funny what you both just said. There was a guy in the locker room that I struck up a conversation with. He was, like you said, jacked. He was really, really physically fit, looked really good on the outside. He had just lost a good friend of his at age 42. He dropped dead really unannounced. It was just kind of a sad scenario. The stranger that I just started talking to made a comment to me as he’s looking in the mirror and says, “It’s time right now.” I would guess him to be right about close to 40 years old. He goes, “It’s time for me to get the inside to match my outside.”

Dr. Olivia: Right. Well-said. The synthetic nutrients you’re finding in a lot of athletic nutrition formulas, we did a whole podcast on it, is really toxic. It’s really toxic to people with these gene mutations because you’re building up inflammation and toxicity in your body.

Dr. Bryan: I think a lot of people, including myself, when you go to a 23andMe or an Ancestry and you look at the commercials, you think you’re going to find out what country you’re from. You think that you’re going to discover basically what heritage that you have. As you’ve expressed and shared with us, there’s a lot more behind the scenes that’s available for you to discover with those tests. Can you go directly through those guys to get that information? How does someone get this?

Dr. Olivia: No.

Importing Your Gene Data

Importing Your Gene Data
Photographer: Ousa Chea | Source: Unsplash

Dr. Bryan: How does our user or how does our listener get full access to know if they have a genetic-

Dr. Olivia: You have to import what we call the raw data or the gene snips into a genomic database, because Ancestry and 23andMe are not medical labs, that’s all they can mark it as is, “I’ll tell you your ancestry, what region you’re from.” They cannot give you healthcare information. So if you take all your raw data and you import it into a free database like Genetic Genie is one. Ben Lynch has one called StrateGene X, I believe. Some of them are free. Some of them you pay 50 bucks. The labs we use, we use labs like Genova or even Aperion Health. Because doctors are ordering those tests through FDA-registered labs, we get that as health information. But people have access to it through 23andMe or Ancestry.

Dr. Olivia: You guys, those consults are so fun to do. It’s like having a crystal ball or tarot cards. When I do a genomic consultation with somebody and I’m interpreting the data, they’re like, “Oh my gosh. That’s my mom. That’s everybody on my dad’s family. That’s all my aunts.” It’s like you’re telling them their health history. They don’t even have to tell you. You’re telling them the risk factors, the vulnerabilities. From that, you can create a customized plan to either test certain markers or reduce risk factors.

Dr. Bryan: Awesome, guys. Anything that you want to make sure you hit or touch on on that topic before we wrap up?

Closing Thoughts

Dr. Olivia: I just want to say one thing about methylation. We’re talking about methylation and homocysteine because it’s very specific to MTHFR. But there are other pathways in the methylation system. One’s called COMT and it affects your ability to detoxify estrogen. So when you have that mutation or that mutation in combination with MTHFR, it can increase your risk for irregular hormones -positive cancer. There’s also other pathways that affect irregular hormones production. There is a correlation between this mutation by itself or combined with other gene mutations and brain irregular hormones imbalances that lead to anxiety, depression, etc

Dr. Olivia: There’s a lot of value in not just treating symptoms and giving someone a diagnosis and getting to the root cause

Dr. Bryan: I think with the advancement of the study of epigenetics and all the different tools that are available to us, we can discover things that can change the destiny of what our experience through, like I said in the beginning, the quality of our life experience can be if we know what we’re doing and we actually get in the hands of someone like yourself or anybody else that’s trained in this particular sector of healthcare, which is awesome.

Dr. Bryan: Look, it’s hard for me to pronounce, like I said, MTHFR. But there was a lot of good content in what you just shared. You schooled me a bit, which is great. I think that it’s wonderful information that’s available to people so that we could be on the cutting-edge of how to keep yourself healthy and to keep your family healthy for as many years to come. Thank you for sharing your knowledge and expertise again.

Check out our page for more of our podcasts.

Add Your Comment (Get a Gravatar)

Your Name


Your email address will not be published. Required fields are marked *.