Transcription
Hi everyone, welcome to the Mastering Your Fertility podcast. This show is all about reclaiming health, enhancing fertility, and preparing for pregnancy. I'm Kristin Cornett, a certified nutritional therapy practitioner, and I'm Dr. Haley Nye, a licensed naturopathic physician and a nutritionist. And we are the creators of the online fertility platform Tiny Feet. So, thanks so much for being with us today. We're excited that you're here to learn more about your fertility and the health of your future baby.
Today, we're gonna be doing episode four of our podcast. It's gonna be all about genetics. So, understanding how our genes affect our health has been all the rage in recent years. So, we're here to help you understand how this applies to you on your preconception journey. So, we're gonna start by introducing you to your genes, helping you understand what they do and how they function in your body. We'll also, again, go into an exciting new field of study called epigenetics, which looks at how our genes interact with our internal and external environment to promote health or disease. Then, we'll spend some time talking about three of the most common genetic variants or mutations that can influence fertility and pregnancy. The three that we'll be covering are MTHFR, PEMT, and VDR. And we'll explain what all of those mean a little later on. And then finally, we'll wrap things up by discussing a type of genetic testing called carrier screening. So, this is something that you and your partner can do before you conceive to help you plan for pregnancy and understand your future child's risk for inherited genetic diseases.
So, let's kick things off by talking about what genes are and what they do for us. So, basically, genes are just segments of DNA. And these segments of DNA encode for proteins in the body. So, the way that we make proteins is based on the instructions provided by these little segments of DNA. And those are all rolled up and go into our chromosomes. And that's what that's what makes us who we are, basically. So, these are responsible for the function of all of our cells and biological processes in our bodies. And they also create the individual characteristics that we can see in other people, like our hair color and our eye color, the shape of our face, and, you know, what our hands look like and our feet look like. All these quirks that make us who we are.
So, one thing I think is really important to talk about right up front when we talk about genes is that genes don't determine the fate of our health in most cases. So, barring legitimate inherited genetic diseases, our genes are really interacting with our internal and external environment to create health or disease. So, what we put in our bodies, our diet, how much nutrition we're receiving, whether or not we're exposed to toxic chemicals in the environment, our lifestyle, all influence how our genes function and whether or not they're able to make all these proteins and different molecules that we need to be healthy. So, we kind of like to think of it like your genes are the blueprint for a house, but your environment is everything you put into that house. So, how it actually looks and feels on the inside is based on our environment, not our genes.
So, that kind of like brings us to epigenetics, which is, as we mentioned in the introduction, kind of a new field of study that talks about how our environment and diet and lifestyle affect our genes. So, epigenetics refers to actual changes to the structure of our DNA. So, it's like the nutrition that we're putting in our body, for instance, can cause little tags to be attached to our DNA strand. And that changes how those genes are expressed. So, and it can change how our genes behave. And these, these changes in behavior can actually be inherited generation over generation. So, what I put into my body today, you know, if my genes are lacking nutrition to express a particular protein, and that goes on throughout my entire lifetime, and I have a baby, that change can be inherited in my child and can put them at risk, for instance, of heart disease or cancer or diabetes as they grow older. So, epigenetics is really interesting because it has such a huge implication for the health of future generations. So, this can affect my children's children and several generations down the line, what I'm doing today. So, even though the actual sequence of my DNA is the same, the way that genes are actually behaving in my body is different, and it's gonna cause it to be different in my children and potentially cause it to be different in their children as well.
That is so interesting. It is interesting. You did a great job of explaining that. But now, I think what we want to go into is talk a little bit about some of the specific types of genetic variation, things that are not epigenetic. So, these are like inherited changes in our DNA strand. So, what these are called are single nucleotide polymorphisms, or SNPs. So, Dr. Haley, do you want to talk about what SNPs are?
Yeah, I could talk about what SNPs are. So, within our genes and the DNA strands are actually made up of nucleotides. And they're four letters, actually. It's quite amazing how we can have such diversity in our genes with just different strands of four letters. And what happens is that one letter is actually swapped out for another. And so that's why they call it a single nucleotide polymorphism. So, it's like a substitution in nucleotides.
Exactly. And so, that substitution is going to change that blueprint that Kristin was talking about and how our body, or those, you know, the cells are going to read that DNA. So, when it goes in to read that segment of DNA in order to create a specific enzyme, then it's going to make that enzyme just slightly different. And it's gonna be shaped slightly different. And there's actually a lot of SNPs that are in our genes. And there's, with overtime, research has found specific SNPs to be more important than others, right? And that have much more of a significant impact on our health. So, basically, what we're saying is that I have a, I have one change in a nucleotide in a strand of DNA within a gene, and that changes how well I'm able to produce, or how appropriately or properly shaped, I'm able to produce a particular protein or enzyme or something I need for a biological process, right? So, the analogy is like maybe a rubber band. A, a rubber band that could be really tight, right? And so it can hold things a little bit better. If you have a looser rubber band, it's not going to be able to hold things as, as better as better. So, it's, yeah, it's just gonna be shaped differently. It's going to not work as well as somebody who, you know, has really tight, well-shaped rubber bands. Well.
So, what's really interesting about SNPs, I think, is that these have existed in our genetic code for thousands upon thousands of years. I mean, these are normal variations in, in genetics. And I think what makes them so relevant to our health today is that we have so many external forces acting on our bodies. And our genes aren't really set up to deal with processed food nutrition or excessive amounts of exposure to toxic chemicals. So, we already have a predisposition toward a particular pathway in our body behaving differently. Like, we'll talk about methylation here in just a minute, but we already have this predisposition toward a variation in this pathway, and then we make it worse through diet and lifestyle and toxic exposure, right?
Okay. So, some SNPs can directly cause disease or a condition, like sickle cell disease is, is a SNP, right? One, one change in a base pair in a DNA strand, and that causes sickle cell anemia, basically, right? But other SNPs can just simply slow down, like, a biochemical process, like methylation, right? So, why don't you talk about methylation and our first relevant genetic variation, which is going to be MTHFR?
MTHFR stands for methylene tetrahydrofolate reductase. Mouthful. And in short, it looks like a naughty word. I think maybe part of the reason it became so popular. Yeah, definitely want to learn about that. It sounds like, yeah, Edward. And so, it's an acronym that stands for an enzyme that is created that takes your unmethylated folic acid, per se, and it methylates it and changes it into a methylated form, folate. And so, what the heck is methylation? Well, it's actually a really broad term. And basically, the definition is taking one carbon atom that has three hydrogen atoms on it, the smallest molecule in our body, and changing it and taking it from one molecule and putting it on another. So, it's basically taking, like, a puzzle piece off of one molecule and attaching it to another. And it's a vital process in our body to be able to change the function of what that molecule is doing in our body. And so, um, so taking that, so it's really important in, like, creating neurotransmitters in our body, either creating them and breaking them down, DNA. It's especially important. So, when Kristin was talking about epigenetics, it's actually the process of methylation which is causing those tags to be placed on your DNA strand.
Exactly. So, depending on how many carbon atoms or methyl groups are attached to that specific DNA segment will determine if that gene is going to be on or off. So, whether it's expressed or not in our body is determined by how many methyl groups we have attached to what parts of our DNA strand, right? So, there's over 200 enzymes in our body that are actually using methyl groups to be able to do its job.
That sounds kind of important. Yes, Robin. I mean, carbon methylation is basically referred to as one-carbon metabolism because it's just the transfer of one methyl group or a carbon atom to another molecule. And our entire life form is based on carbon. We are carbon-based, yeah, beings. So, methylation is pretty important.
So, I mean, it does, methylation does a bunch of really important stuff for us in our body. So, why don't you talk about some of those things?
So, well, I guess the first thing that is relevant that we did want to talk about that we mentioned earlier is the MTHFR gene, right? So, with MTHFR, it's part of a process for a big piece of detoxification. And so, methyl groups and this MTHFR enzyme is needed to break down any toxins or, you know, chemicals or basically anything that we want out of our body needs to be have put methyl groups on it so it can get out of our body, right? And so, um, so the MTHFR is part of a whole system, which there's a lot of other enzymes that are in this particular detoxification system that requires folate. It requires B12, B6. So, a lot of what they call cofactors, or our vitamins and minerals needed to make this process work effectively. And so, what it does is it converts the, again, the methyl folate to the biological active form of what's called 5-MTHF. Okay? And then that 5-MTHF already has that one-carbon group on it, so it's good to go. It doesn't need that enzyme to be able to attach that one-carbon group. Okay? And so, um, although it may seem complex, methylation is really just, again, the transfer of that one single carbon. And then it's going to create glutathione, which is the body's most abundant, important antioxidant. Okay? And then it also, I mentioned that the expression of DNA, so those tags, it really promotes energy production, talked about detoxification, is a propensity towards physiological stress. And so, when you're high, like exercising a lot, you need a lot more methyl groups to be able to repair and those cells and create new cells. And then it's really important in immune function as well. Okay?
A lot of different things there. So, I mean, thousands of biochemical processes that are that are important for us. So, one of the major jobs of this methylation cycle, when we're talking about methyl folate, this activated 5-MTHF, one of the major jobs of that molecule, of activated folate, is to recycle the amino acid homocysteine back into methionine. And if we can't do that, we get this buildup of homocysteine in the body. So, why don't you go into, like, what homocysteine is and why it can be harmful to us? Why is it relevant?
Homocysteine is an amino acid molecule in our body that is of little or no use, except for the fact that it, again, is recycled back into methionine. And so, homocysteine, if it can't be recycled back to methionine, will build up in the bloodstream. And it actually causes damage to our blood vessels. And so, it's been implicated in causing heart disease. Yeah, not the one cause, but it does increase your risk for heart disease. Now, it also increases our risk for certain pregnancy complications and, you know, potentially even fertility issues as well, due to the inflammatory nature of it. But it can also impact reproductive health through a couple of different things.
So, what you go into what those are. So, it has been indicated in lower ovarian reserve and poorer outcomes for say, patients that are going through IVF. It also has been implicated in increasing the risk of your children having or developing a chronic illness, as well as reducing. So, if you have proper methylation, then it can actually reduce the risk of developing, having your child develop autism. Okay? As well. So, methylation is really important to the brain.
Exactly. Neurodevelopment of the brain. So, then during pregnancy, it can reduce her complications like miscarriage, preeclampsia, preterm birth, low birth weight. One thing I think that this gets investigated in prenatal settings because of the connection between MTHFR and the development of vascular disease. So, you know, we talked about heart disease earlier, but it can actually increase the risk of blood clots. Yeah. Yeah. So, it can contribute because of the blood clotting risk, it has been shown to implicate, to increase your risk for miscarriage. Okay? Yeah.
All right. So, there are a couple of different types of MTHFR mutations that we can have. So, when we say, you know, we have a variation in MTHFR, it's not just like, yes, you have it or no, you don't. There are several different versions of this variation that you can have, right? So, there is the 677, sorry, the C677T. So, the C and the T are those four letters that I was talking about in your DNA. And the 677 is just that the space in that DNA segment to where there was that single nucleotide switch out. Okay? And the other one is A1298C. So, similar, 1298 is that position where it had the switch. And if we didn't make this clear earlier, then you receive genes from your mom and your dad. I'm sure you are well aware of that. And so, you're a gene for mom and dad are gonna be totally different, right? And so, you can receive an inherited SNP from both, for either mom or dad, or both. And so, if you've only received one and not the other, then it's called heterozygous. And then if you receive both, it's called homozygous. And then with MTHFR, you can also have one of each. So, you could get one copy of C677T from dad, and you could get one copy of A1298C from mom. And then you would be something called compound heterozygous.
Exactly. Of each. Yep. Exactly. So, these different forms of MTHFR mutation, they correlate to different levels of reduction in MTHFR activity. So, like, one copy of A1298C is the least disruptive to normal MTHFR production. And then a homozygous C677 mutation is the most disruptive. So, it reduces that enzyme activity by about 75%.
Yeah. 70%. 70%. Wow. That's a big reduction. Yeah, it is. Oh, let's talk about some of the things that we can do to support. I mean, many things. I wanted, sorry, Chris. I wanted people to know how prevalent this is. And, yeah, talk about for sure. So, having a heterozygous inheritance of these particular genes is actually pretty common. It's up to 40 to 50% of the population, depending on your ethnicity. And having homozygous inheritance is less common, and it's still pretty common. So, the 677, the C677T is around 7.5 to 10% of the population. And you and I just got lucky and we both inherited that lovely homozygous mutation, or 70 to 75% reduction in MTHFR activity. Yeah. So, we have a very personal story about our connection. Homozygous. Definitely.
So, I think it's important for people to understand if they have been identified as having, for instance, a homozygous 677 mutation, there are a lot of diet, lifestyle, supplement things that we can do to manage this better so that it doesn't impact our health and cause any of these things that we were just talking about about how it impacts fertility and pregnancy. So, why don't you get us started talking about what are the major considerations that we need to be thinking about during preconception and pregnancy to make sure that these things aren't impacting us in a negative way?
Right. So, MTHFR, I would definitely, this is the one mutation that I always check in all my patients that are trying to get pregnant or planning pregnancy. And because it does have so much implication on, again, miscarriage and neural development disorders in children and even neural tube defects. And the main reason why, you may be familiar of how important it is to take folic acid before you get pregnant for the neural tube defects. Research has shown that with folic, when, so most prenatal vitamins have folic acid. And folic acid is what's called when you hear about fortified foods, is because it is including folic acid in the food along with other vitamins and minerals. Things made from flour, juices, things like that. Yeah, foods, basically processed. It's like when you see "enriched" on the label, enriched white flour, that means it's been fortified and that it's included synthetic, man-made vitamins. And which folic acid is one of those. And the reasons why they did that was for a great reason, a public health push, because they wanted to reduce the risk of neural tube defects. And it actually did decrease the amount of neural tube defects, which is fantastic. However, they are still missing the mark on, again, at least 10% of the population that can't process folic acid. And so, what happens is in your body, when folic acid is absorbed with somebody who has especially a homozygous snip, then it can't very well. It, again, that enzyme is working on only a 30% pace. And it has to go through that enzymatic process to be able to be used in the body. And it just kind of backs up in the bloodstream. So, the more folic acid you take, the more actually harmful it can be. It can actually slow down your metabolism and slow down all the, you know, the methylation process that needs to happen. And so, the number one thing to do is to find a prenatal vitamin that has methylated folate. And it will look, it will say like L-methylfolate or D-5-MTHF instead of folic acid. Recently, I also, and liking folic acid to that that works as well. It's different than folic acid. It's actually so linic more acid. So, if you find with something with that, then you can do that as well. So, it's that particular form of folate has gone further down the chain of being transformed into 5-MTHF. So, it's not, it's not a synthetic version of it. It's kind of like an intermediary product that's more easily converted.
Yep. To 5-MTHF. Yeah. And it can cross the blood-brain barrier pretty quickly without needing the receptors to be to get across the barrier. So, all right. It's utilized by our body a bit easier. And the other thing that you want to do is to be able to avoid folic acid in your food. And so, any enriched flours, processed foods that have those type of flours, or even milk. And, you know, they fortify milk or milk alternatives with folic acid to sometimes. And so, you want to avoid folic acid enriched foods. And it'll say that on the label, right? You'll be able to see, you know, folic acid, whatever percent daily value on the label.
I'm like Dr. Haley was saying, if it says "enriched" on the label, you know that it contains synthetic vitamins. But it'll also typically contain a little snippet on the nutrition facts that say, you know, percent daily value of XYZ synthetic vitamins. You can look that way too, right? And make sure you don't start avoiding these foods without taking some type of supplementation or dramatically changing your diet to make sure that you're getting enough folate in your food. And we're going to talk about that in just a second. I did want to talk about the amount of folate that you should be getting in your prenatal vitamin. And the, I would say, the very minimum is 600 micrograms. 800 is really where I like it to be. And even 1 milligram or 1000 micrograms is a good start for preconception. And you really can't, I mean, you can take like up to 5 milligrams. I know some naturopaths or they really increase the amount of methyl folate that you're taking before pregnancy and during the first trimester. From the research that I've read, I would say that's fine and safe. But after your first trimester, decrease it down to 1 milligram or even 800 micrograms. So, once you're through that critical early development window where neural tubes are closing and developing properly, then you can kind of decrease it. You don't necessarily need all of those methyl groups, yeah, in flexing all the time. And, and if you can get it through food, I would say you really don't need more than a milligram. You should be fine, even if you have the homozygous MTHFR mutation.
So, diet is like the foundation of this, right? I mean, yes, this is something you and I are both very passionate about having our backgrounds in nutrition. But I think a lot of people kind of discount our ability to get nutrients from food. And we think, oh, we'll just take a supplement and we'll fix it that way. But diet really needs to be the basis. So, what are some of the folate-rich foods that we should be including in our diet to make sure that we're getting enough that way, kind of a natural food form?
Yeah, the best foods are the three L's, is how we heard it stated. So, leafy greens is a big one, legumes, and liver. Liver? Huh? Yeah. Give me. It's okay. We're headed in new territory now. I know it's a hard one for people to swallow. I, I have to say, my experience with liver has been very interesting. So, I definitely did not grow up eating any of those. I mean, I would consider liver a traditional food. This is something that we used to include on a regular basis in our culture, in our food supply. Now, it's kind of seen as a throwaway part of an animal. You know, we eat the muscle meat and toss away the organ meats. But these are some of the most nutrient-dense parts of an animal. You know, when we were a little more dependent on ourselves to come across our own food, you know, hunting and breaking down an animal by ourselves, we wouldn't have thrown away parts that were incredibly nutritious. I mean, you used the entire thing. You needed to. You couldn't just go to the grocery store the next day and buy whatever piece of muscle meat that you wanted, right, to cook. So, I think it's, it's really interesting to start to see, especially like in the paleo nutrition movement and ancestral health, this return to more traditional forms of eating and including parts of the animal that we would throw away for most of us, right, now. So, I also want to touch on legumes. So, when we say legumes, that does mean beans and lentils. Yeah. And leafy greens. And a big part, these two food groups are a big part of the Mediterranean diet, which has been shown to be really productive and protective in heart disease and cancer. Excited. It's a very well-known diet. And I would say a big part of that is because of the methyl groups, or the, the folate that is part of those leafy greens and legumes.
Absolutely. And if you actually sprout your legumes, which may not be a familiar term for some of you, but you can take your beans and lentils and soak them in water for like a day, and then you just kind of like put them in a jar covered with like some cheesecloth, and they'll actually start to germinate. And once they do that, they increase like four times the amount of folate that they would normally have. That increases significantly when you sprout. So, that's a really cool way to increase the folate as well in your legumes. Yeah.
So, if you're one of those people who are just completely not into taking vitamins, you know, you can get it through a good healthy diet, again, from what Kristin was saying, sprouting your beans and lentils before you eat them, making sure you're getting two to three servings of those a day. And then also leafy greens, making sure that you're getting two to three servings of those a day as well. So, a cup of, you know, lightly packed or packed greens, right, is uncooked would be a serving. And then if they're cooked, definitely a half a cup is a serving. Yeah. So, you want to make sure that you get enough because, I mean, some people think, though, I'm eating a salad, and oh, that's plenty. I have so many vitamins in the salad. And it's really like, uh, you need to do like three or four more of those salads.
Well, and leafy greens, when we say leafy greens, you really just mean like green vegetables. It doesn't necessarily have to be kale, you know, or collard greens or chard, you know. It also includes things like broccoli and asparagus. Like, these are other green foods that contain quite a bit of folate. So, it's not just, you know, eating a whole bunch of salad. You can get it through other green veggies as well.
So, there are more nutrients than just folate that support the methylation cycle. So, MTHFR helps us, you know, provide enough methylfolate that's needed for methylation. But there are some other nutrients that interact in this cycle as well. So, why don't you talk about those nutrients and what some of the good food sources are of those?
The nutrients that are great for methylation is choline. Mm-hmm. And we did a whole blog article on choline. And it is becoming one of my favorite vitamins. We're going to talk about choline here in just a minute. Exactly. B12 and glycine. And so, food choices that you can find at these specific nutrients is grass-fed red meat, and again, liver, pastured egg yolks. And basically, what that means, the eggs were able to eat grass and are not the eggs, the chickens, the chickens were able to eat insects and live on a pasture and all the food that's out there on the pasture instead of eating corn. Really changes the nutrient makeup of that egg yolk and increases the amount of choline that you're gonna be able to get and B12. And then the last one is bone broth and slow-cooked meats and some wild-caught seafood in there as well.
Right. Right. Definitely. Yeah. So, we put, we kind of attached these quality tags onto food. It's not like, just eat red meat and liver. It's eat grass-fed red meat and liver. And the reason for that is, you know, like Dr. Haley was saying, with with pasture chickens, the way that it changes the nutrient profile of the egg, I mean, it's the same thing with with grass-fed meats. Like, cows are not meant to eat corn. They're not biologically designed to eat grain. And, you know, probably 99.9% of the meat that you find in conventional grocery stores is from cows that were fed corn. And they develop a totally different nutrient profile when they don't eat a biologically appropriate diet. Cows are supposed to eat grass. They produce more beneficial nutrients, including like an important fatty acid called EPA, when they eat a biologically appropriate diet. So, just, you know, on that. And then farm seafood is one of the most toxic foods out there. If you're gonna eat seafood, do not eat farm seafood. They're given all kinds of antibiotics. They're raised in dirty waters. There's just all kinds of, you know, metals and contaminants and things in farm seafood. So, avoid those.
Okay. So, Kristen is going to talk to us about the next mutation or SNP. It's called PEMT. And you may not have heard of this. It's relatively new, but it is extremely important for preconception care and fertility.
Yes. So, I knew, just let us know what that means.
Absolutely. So, PEMT is another acronym for a big mouthful word called phosphatidylethanolamine N-methyltransferase. And thanks. PEMT is once again, just like MTHFR, it's an enzyme. And this enzyme is important for us because it helps us produce a compound called phosphatidylcholine, or phosphatidylcholine, however you pronounce it. And when you have a snip in this PEMT gene, it reduces your ability to produce enough phosphatidylcholine to support your body. So, phosphatidylcholine is important for things like every single cell membrane in your body is made up of phospholipids. So, your cell has this phospholipid bilayer. And that's what keeps the integrity of your cell wall. It's what helps you absorb nutrients. It's, it's what helps you get rid of waste. So, you definitely don't want your cells to have compromised membranes. This can make your cells leaky, and you're not able to absorb the nutrition that you need from your food, and you're not able to reduce the waste in your cells the way that you need to.
So, another important aspect of phosphatidylcholine is producing fluid bile. So, bile is a substance that's produced in your liver. And it's, it's basically the river on which your toxins are eliminated. So, yeah, that's kind of how we, how we learned it in nutritional therapy education. So, when your liver detoxifies, when it, when it processes these toxic substances, which can either be toxins that we absorb from our environment, you know, all this stuff that we're exposed to these days, but it's also cellular waste, you know, normal biological processes that create waste. And the liver is responsible for processing those. And then they inject, the liver injects those, those toxins or waste products into your bile. And your bile is stored in your gallbladder. And when you eat a fatty meal, your gallbladder contracts and releases bile. This helps digest fats, and it also helps eliminate toxins through your waste. So, phosphatidylcholine is important for keeping your bile fluid and making it able to shoot out of the gallbladder the way that it's supposed to. So, if you don't have fluid bile, you can end up with cholestasis or sluggish, compacted bile in your gallbladder, which means that you're not able to digest fats as well, you're not able to eliminate toxins as well. And it can also cause inflammation and infection in your gallbladder. This is one of the most common surgeries done today in the United States. And it's also one of the most common surgeries done on pregnant women is gallbladder removal. So, I think we think that this organ is like just an accessory, you know, we don't really need it. Our gallbladder is actually really important. We do need it, and we need to make sure that it's functioning properly.
Well, it's interesting, like, what is the, why is everybody having gallbladder issues? Yeah, I, that's, I think, why is it being removed in pregnancy? So, the reason that it's being removed in pregnancy actually is because PEMT enzyme activity is dependent on estrogen. And estrogen is low in pregnancy because we're actually higher in progesterone. Progesterone is what allows us to sustain our pregnancy. So, estrogen naturally decreases. You have less of this PEMT activity to produce phosphatidylcholine. And then you don't have the tools that you need to get that bile out of the gallbladder. So, if you already have kind of a predisposition, if you have this, this snip, or your PEMT isn't working well because you're just not giving it the raw materials that it needs to produce phosphatidylcholine, and you're going to struggle a bit when you get pregnant. And I actually believe that quite a bit of, like, morning sickness is caused by some of this gallbladder congestion in early pregnancy. It's why a lot of women experience maybe more morning sickness and would be considered normal based on hormonal changes.
Interesting. Yeah. I love that. So, now that we know why it's so important, and we definitely need this for our body, and the implications in pregnancy, and tell us a little bit more about how important phosphatidylcholine is to our reproductive health.
Yeah, so, I mean, we use choline for, well, so PEMT is in addition to producing phosphatidylcholine, is important for us to produce choline. Which is kind of like a, it's a B vitamin relative. And choline and phosphatidylcholine are both important to this, this whole biological process. But choline is a backup nutrient for the methylation cycle. So, we just talked about MTHFR and how important folate is for methylation function. But when the body, for instance, if you have an MTHFR mutation, and the body doesn't have enough folate, it will use choline as a backup nutrient in the methylation cycle. So, choline actually is able to prevent neural tube defects in the same way that folate is. So, I happen to be a proud owner of a homozygous MTHFR and PEMT. So, I not only am lower in folate, but also lower in choline. So, I don't have the primary nutrient or the backup nutrient, enough of those things to make those processes work really well. So, I have to be pretty careful about my diet and my supplementation.
So, some other things that choline does, in addition to reducing risk of neural tube defects, is that choline is really important to brain development during early pregnancy. So, this is actually a nutrient that you should be taking before you get pregnant, all the way through pregnancy, and through breastfeeding, because this is incorporated into your baby's brain. And they found that women who consume more choline during pregnancy and lactation, um, have infants that have better memory and information processing. So, you want your baby to grow up smart and meet all their milestones. Definitely make sure that you're getting enough choline. There are some animal studies that are suggesting that choline deficiency during pregnancy can actually impact learning and memory for the entire lifetime. It's been done in mice. So, they're actually able to pick out which, which mice had enough choline in utero compared to the ones that didn't, which is pretty cool.
Very cool. Yeah. And within that same study, they did different amounts of choline, yes, didn't they? They did. So, I think they were testing like 450, which is the current RDA for choline, which we didn't even have an RDA for choline until fairly recently. It's kind of a new discovery in terms of an essential preconception nutrient. But they compared like 450 milligrams of choline to 930 milligrams of choline. And it was the 930 milligrams of choline in the study that we're actually showing greater benefits for fetal development.
Right. Oh, amazing. Yeah. Obviously, we already talked about phosphatidylcholine and the integrity of our cell membrane. So, that's incredibly important to fetal development. There's also some evidence to suggest that choline aids in the development of the placenta. Oh, right. And this is super important for early pregnancy because you need, you need properly formed placenta from the very beginning. So, your placenta is the nutrient delivery system for that fetus. And there is, there's some preliminary evidence, like I wouldn't say that the studies are quite there to support us, to support a causal relationship, but there is some evidence to suggest that choline may play a role in the development of preeclampsia.
Yeah. Imagine, because it helps with the angiogenesis, which is the creation of the blood vessel within the placenta. And so, what's happening with preeclampsia, which is a condition that I believe around 5% of women can get towards the end of the pregnancy, which it can be pretty dangerous to the baby and the mother, but essentially, the preeclampsia is a condition with it causes high blood pressure in, in the mother. And it's all has to do with a blood vessel, or the arteries of the placenta and the liver and, and all that too. Yeah. There's some inflammatory molecules that can be produced by the placenta when it doesn't develop the way that it's supposed to. And it's not very, very interesting.
Yeah. So, I'm curious if choline, or the choline deficiency in that very first trimester when they're developing that placenta, is creating this angiogenesis that is setting the mother up for preeclampsia later. Yeah, I mean, we don't have, we don't have a clear-cut cause of preeclampsia from the scientific research. There's lots of correlations from different studies that have been done on a variety of nutritional and environmental exposure topics. But we still don't have a way to say, this causes preeclampsia. It's probably one of those conditions that can be caused by a number of things. But I do think that based on what I've seen, choline could definitely be playing a role here.
Right. So, I mean, these, these aren't, we're not even close to all the cool things that choline does. But, I mean, some other things that are really important is, like, intestinal function. Obviously, making sure that you're digesting your food is super important during pregnancy. All the nutrients that your baby gets are coming from what's already in your body and what's being digested through your food. So, making sure that you can digest your fats, that you have proper motility in your gut. So, we were talking about how phosphatidylcholine helps with bile flow, and bile flow helps keep your intestines moving so that you don't end up with a buildup of bacteria in the small intestine during pregnancy, which can cause small intestine bacterial overgrowth. And that is no fun to have.
You know about that. I know about that. We're very intimate with that. So, can you tell us, Kristen, how best to support the PEMT mutation?
Definitely. So, the first and foremost thing is going to be making sure that you get sufficient choline in your diet. So, choline is the richest sources of choline do come from animal foods. Somebody who has a PEMT mutation and is eating a plant-based diet might have a little bit of trouble getting enough choline. So, the, the foods that you're gonna want to focus on are going to be liver, once again, I know everybody's favorite, egg yolks, red meat, chicken, fish. You can get some choline from plant foods, and you can focus on things like legumes, once again, those are kind of a fertility superfood, cruciferous vegetables, and also nuts and seeds do have some choline. You'd have to eat in total about 2.2 pounds, I think is this the recent number I've heard, 2.2 pounds of these foods a day to get sufficient choline. And if you do have a PEMT mutation, you're probably gonna want to be focusing on getting about maybe 900 to 1200 milligrams of choline per day. So, I mean, you could get this through like five egg yolks a day. Even with an MTHFR mutation, if you have it, almost, I guess, snip like Kristen and I have, the recommended daily amount of even choline to support the methylation pathway is 1200.
Definitely. Yeah. You want to make sure that you have enough choline to support the methylation cycle. And you also want to make sure that you have enough choline to support all of these other things, though, that we just talked about with PEMT. So, absolutely. I would say err on the side if you have either MTHFR or PEMT, especially if you have both, like I do, make sure that you're getting about 1200 milligrams of choline per day. And, you know, you can try to get as much as you can from food, but if you're struggling, I would definitely recommend a supplement. Phosphatidylcholine is very easily absorbed in the small intestine. You can get that in the form of sunflower lecithin. And you can take it in liquid form. Just remember, when you see phosphatidylcholine on a label, whatever amount of phosphatidylcholine is on that label, the choline content is only 15% of that number. So, if you're aiming for, you know, 1200 milligrams of choline, you're gonna have to take more phosphatidylcholine to get to that number. So, some will actually say phosphatidylcholine, for example, I have a supplement I'm here that I'm just looking at that's from Designs for Health. Yeah, it's a phosphatidylcholine supplement of 420 milligrams. It says 420 milligrams, but it does say from 1200 milligrams of soy lecithin. So, they get phosphatidylcholine from the lecithin. And then I believe that just the choline portion of that phosphatidylcholine is even only 15% of that. Yeah. So, it's not that much choline.
That's wild. Yeah, it is. So, I'm personally take a liquid sunflower lecithin about two teaspoons a day. So, on the label, it's like phospholipid complex, you know, 5200 milligrams. And I know that I'm getting about a thousand. Yeah, it's like seven to eight hundred or so milligrams.
Absolutely. An easy nutrient to get? No, it really, you really need to be focusing on food sources of choline and then supplementing a little bit. Also, um, I love when prenatals have choline in them, but it's also a really bulky nutrient to include in a supplement. So, a lot of supplement companies don't do it. So, there's gonna be a lot more things from us about choline because you can tell that we're kind of a love affair with it. We do. So, stay tuned. We will have more information coming your way.
Moving on. Yes. I think we're gonna start talking about VDR, which stands for vitamin D receptor. And I think Dr. Haley is gonna take us through that one.
Yeah. So, my VDR, vitamin D receptor, is exactly what it stands for. It is the snip that makes it so you don't have as many viable vitamin D receptors on your cells for vitamin D, when it's in the bloodstream, to come and signal that cell and do its job. So, it's going to be, if you have this snip homozygous, which I actually do, that's one thing that's not wrong with me. It's the only, the only thing that's not wrong. We promise, we didn't just pick the ones that we have. We all, we didn't, we just so happened to have them. But what it means is that you will need to make sure you're more diligent about knowing what your vitamin D levels are in your bloodstream. And you may need to keep them at a higher level. So, for example, the average woman goes into their doctor and gets their vitamin D checked. If you're not supplementing with vitamin D, it's really likely that your vitamin D is probably around, you know, 25 or 30, which is actually not sufficient. Most people, you know, a lot of people aren't, and usually they're insufficient in vitamin D unless they're supplementing. And if you have a VDR homozygous mutation, even heterozygous, then you'll want to keep your vitamin D levels up around the 70 to 80 range. Cause you want to keep enough vitamin D in your bloodstream to overcome the reduction in the neuro, in the inside of receptors.
Yeah. Yeah. So, what vitamin D is so important to pregnancy? And they have found recently that it does, if you have vitamin D deficiency before you get pregnant, but you don't correct it before pregnancy, that it increases your risk for miscarriage. And it also is going to increase your child's risk of certain conditions. So, it can increase the risk of your child having childhood obesity, allergies, asthma, eczema, even autism, type 1 diabetes, and other neuropsychiatric disorders. And so, it's not a small thing to mess with.
No, it's not. Definitely want to know what your vitamin D levels are and get them corrected before you get pregnant. Vitamin D is definitely important to so many different functions and organ systems in the body. I mean, the risk for these things that we're seeing, the reason that risk for like allergies, asthma, and eczema is higher is because vitamin D is a regulatory nutrient in the immune system. So, you can develop immune challenges or even autoimmune disease like type 1 diabetes if you don't have enough of it. And blood sugar regulation is another thing. We could go on about vitamin D. In fact, an entire podcast. And I'll bet we will at some point.
Exactly. So, it'll be. We support a VDR snip. What should we be doing? What should we be looking for? So, it's really hard to get vitamin D through food alone. You can, and, you know, certain milks will get fortified with vitamin D in it. So, that's a good start. You can do that. You can get vitamin D through cod liver oil, beef liver, cheese, egg yolks, fatty fish. And most, you know, as a physician, I typically have all my women of pre-pregnancy be taking vitamin D. And my amount of vitamin D that I suggest based off of the research is 4,000 IU's. Right? So, that seems like a lot, but it's actually perfectly safe before.
and during pregnancy so you you won't be overdosing. and they've done a lot of studies with 4,000 IU's and they have found that it's been the most protective and reducing your risk factors of the things that we mentioned. and it's it's a much more effective dose to help women who are not sufficient and the early stages of pregnancy actually get closer to sufficiency by the time their babies are born so that the baby actually has a sufficient level when they're born.
it's actually important. yep. okay. so you mentioned before that we should be aiming to maintain a blood level. if you have a VDR snip, either heterozygous or homozygous, you're aiming for about 70 to 80 nanograms per milliliter level. and if you don't have a VDR snip, you should still be trying to aim at least 250 or so.
that's right. kind of showing one thing I did want to mention too. if you do find that you have a PDR snip and then you go have your vitamin D tested and you realize it's below the level that we recommend, I your doctor might recommend doing like a once weekly dose. when you have a BDR mutation, I advise against that. I actually would advise that you just do a daily dose, even breaking it up. so like doing, you know, 3,000 in the morning and 3,000 at night or whatever they suggest to do to be able to get your dose up and then retest. I'm even you could do every six weeks or even every three months. yeah, it doesn't take that long. yeah. I really interesting test. so it's not covered by your insurance, you might want to do like every three months or so. that's like 60 bucks. yeah, it for about 60 bucks now, just vitamin D. exactly.
okay. anything else you want to mention about vitamin D where we know move on? okay. so let's talk about testing for a second because we've talked about some of these really important snips. so you can actually have yourself tested. you don't need to go to your doctor and how these orders. you can get them that way. but one of the easiest ways to find out whether you have some of these things that we're talking about is to do your 23andMe. so you can order that test online. it's saliva based. they should pick it directly to your home and they send you the results. you won't be able to make much sense of the raw data from 23andMe. so the best thing to do would be to send that through another program. the two that I like the best are Nutria Hacker and StradGene. and those each cost about like forty to forty-five dollars to have your information analyzed. I would say that while it's helpful and very interesting to look at this information on your own before you start messing with supplements, I would absolutely recommend that you work with a practitioner who is skilled in interpreting these reports and giving you good recommendations because you know some of these things can interact in ways that might not make sense just from looking at it on paper. you want to make sure that you're working with somebody who's skilled in this to make sure that you're supplementing appropriately if you need to.
perfect. alright. um, so we are going to talk about real quickly about expanded carrier screening. and so this might be something that you may be familiar with hearing like sickle cell anemia that Kristen talked about earlier, fragile X syndrome, any inherited condition that possibly could be. for example, if you have. well, let me go back. okay. so how this works is that you you inherited genes from mom and dad again. and if you don't express a particular condition or disease in it, but you have a gene from either mom or dad, it means that you're a carrier. and it means that you do have that particular gene in your DNA, but you're not expressing it because you don't have both from mom and dad. so the reason why this is important is that you can actually when you have a child with your partner, you give that DNA to your child. if your partner just so happens to have that exact same carrier gene in their family or in his DNA, then you have a 25% ish chance of giving that to your child. so for example, if you have a sickle cell anemia mutation and he has one, and then the child ends up getting both, then that child will express the full condition of sickle cell anemia.
so, um, so what you can do is that you can get what's called expanded carrier screening. and this is actually done through 23andMe. so if you want to, you know, kill two birds with one stone. yeah, you can do it. you can go to 23andMe and you can have your genes ran. and they actually will show you if you have a carrier gene of over, I think now 100 or 150 different. really, that many? yeah, there's so many possibilities of possible inherited conditions. and so if you find that you do have one, then you have to have your partner also take the test, right? because it's not Megan, right? it doesn't matter if he doesn't have that exact same gene. and so the reason why this is important, doing it before pregnancy is so you guys can make a wise decision on how you want to move forward. so for example, if there's cystic fibrosis, if you happen to both have that gene, that carrier, and you are really concerned that you're going to give it to your child, you can do things like an embryo, like a donor embryo. you can also do implantation genetic screening. and so if you go through assistive reproductive technology, before they actually implant that embryo or the blastocyst, to then they will test the DNA and make sure that it doesn't have cystic fibrosis. and so there's really some cool technologies that you can do to prevent having this chronic condition in your child. so that's why it's important.
pretty good. yeah, it's pretty good. so you can do that through 23. you can also do it through your doctor. they offer it through many different companies. do it now. counsel is a big one that does it. and we do highly recommend that you do it if you feel comfortable with it. and just, you know, to prevent these inherited conditions being passed on. I think it's always better to know, you know, what your risks are so that you can plan accordingly. and that's that's what we want to be able to help you guys do. exactly.
all right. that was a lot of information that we packed into this roughly hour. so we're gonna wrap it up here for the day. and we are very excited to see you back next week. we will be having a we'll be having a podcast on refined foods and added sugar and why these things are harmful to fertility and what kind of impact they can have on your egg health, sperm health, and the health of your future child. so we look forward to seeing you back then. if you're interested in learning a little bit more about our company and what we do, you can check us out at tinyfeet.co and take our fertility assessment. and that's about all. we'll see you next time. all right.
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