PCOS & MTHFR: Screening and Next Steps [Podcast] - PCOS Diva
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PCOS & MTHFR: Screening and Next Steps [Podcast]

PCOS Diva podcast - Angela HeapYou likely won’t hear about the MTHFR genetic mutation in your doctor’s office, but 60% of the population has this condition. If you have the MTHFR mutation, it means that (among other things) your body cannot convert folic acid into folate that you need for a healthy baby and your own cell replication.

Listen in as I speak with expert, Angela Heap about:

  • what is MTHFR?
  • what tests can determine whether you have the MTHFR mutation
  • the difference between folic acid and folate
  • how MTHFR affects women trying to conceive and those that have suffered multiple miscarriages
  • supplements for folates and B12 you should take if you have the MTHFR mutation


All PCOS Diva podcasts are available on itunes-button

A complete transcript follows.


Angela Heap MTHFRAngela Heap – Nutritional Therapist and specialist in hormones, fertility and pregnancy

Angela is the founder of Fertile Ground Nutrition based in London in the UK and is a Nutritional Therapist and an international expert in Fertility Nutrition. In 2013 Angela had an 80% success rate, followed by a 72% success rate in 2014. Angela works closely with a number of internationally renowned experts in the field of fertility.

She is a regular speaker on the largest free online fertility event; ‘Fertility Question Time’, is a member of the team for Natural Fertility Expert a collection of holistic therapists and is part of a global network of practitioners that work around using DNA analysis and epigenetics. As a Nutritional therapist her view and approach is to empower people towards optimum health, often working alongside conventional medicine practitioners in order to ensure the best outcome. She has supported many couples in their fertility journeys with unexplained infertility as well as other conditions such as PCOS endometriosis, fibroids and cysts. Many of them went on from this to conceive naturally and others through Assisted Reproductive Technology (ART).

Angela volunteers to give nutritional advice on one of the largest Facebook PCOS site PCOS Fertility Support which has over 6000 members and regularly supports ladies on this forum.

Angela writes a regular blog and has written many magazine articles on fertility for specialist fertility magazines and other mainstream health media. Angela trained at the College of Naturopathic Medicine in London.


Complete Transcript:

Amy:                     Hello. This is Amy Medling. I am a certified health coach, and founder of PCOS Diva, and welcome to another edition of the PCOS Diva podcast. Today we’re going to be talking about a subject … a topic that you most likely won’t hear about in your doctor’s office, but yet 60% of the population has this condition. It’s the underlying cause for many chronic illnesses, and it’s the MTHFR genetic mutation. I’ve asked Angela Heap to join us today to share her knowledge around DNA analysis and epigenetics, how it relates to fertility. Welcome, Angela.

Angela:                 Thank you ever so much for having me, Amy. I’m really excited to talk about this because it’s a topic that I’m really fascinated with myself and I use quite a lot in my practice as well to help support people who are having problems with PCOS and also fertility.

Amy:                     That is, I think, a really important topic to get into the hands of women with PCOS and that they can advocate for themselves. I just want to tell everybody a little bit about you, Angela. You are the founder of Fertile Ground Nutrition based in London, England. You are a nutritional therapist and an international expert in fertility nutrition. In 2013 you had a 80% success rate, followed by a 72% success rate in 2014. You work very closely with a number of internationally renowned experts in the field of fertility, and you write a regular blog, and you’ve written many magazines articles on fertility, and you have been trained at the College of Naturopathic Medicine in London. Again, welcome, and let’s dive in. What is MTHFR for those who have never heard that acronym?

Angela:                 I want to dial it back a little, actually, before we jump straight in there with the genetics, because it’s quite a dry subject and a lot of people find it fascinating, but they also want to know a little bit more about it. We do know a little bit about genetics anyway, but I actually watched a really fascinating TED talk a couple of weeks ago about susceptibility to disease and how this can be dictated in utero, so when you’re basically being put together as a new human being, if you like. I thought of you guys and I actually thought about you, Amy, while I was listening to this, because it related to how basically famine or feast can actually alter a person’s makeup, and how they survive basically past birth.

The presenter talked about how babies born to mothers in occupied Netherlands in the 19-, well, during the war in 1944, right towards the end of the war just before they were liberated. It was a really, really traumatic winter, and the babies, basically in utero, changed their makeup in order to survive. They actually had different lipids and also insulin management, so there was a lot of changes there happening, because they were already perceiving at that point, they thought that life outside the womb was going to be a very, very harsh environment for them. Glucose metabolism and lipids, obviously, were important there to ensure that they actually survived past birth, but what was fascinating, obviously, was when they were born they were born to the liberated areas in Europe. Everything was much more the better situation there, and it was past the war, there was food in plenty.

When they actually tested a lot of these babies past 10 years, when they got older in 16, they were actually showing signs of insulin resistance and diabetes, and a lot of them were having obesity, which to me was fascinating because obviously there was a link then to potentially people who may suffer from polycystic ovarian syndrome and PCOS. If you haven’t got family or genes that go right back to famine, and I’ve got an Irish ancestry, so that the potato famine there … I was thinking it’s a really fascinating kind of intro into this whole talk about how your gene pool may be linked back to famine, or wars, or things like that, really. I just thought it was a really, really interesting thing to look at in terms of how you can actually have all of these things and it’s all about genetics loading the gun but the environment pulling the trigger.

A lot of these people had a lot of these problems right from the start, but if they’d had a very, very sort of … a good diet and hadn’t any things, the things that weren’t so good for them, really, and encouraging those kind of problems, they may have actually not developed some of these problems later on in life. It really makes a lot of sense to me in terms of supporting healthy eating plans, the right lifestyle suggestions, and doing that as much as you can preconceptually, so you mitigate to some of these things because you never know what’s happening in the world that you’re born into, really.

Amy:                     That is really fascinating and it really supports some research that’s been done about women with PCOS having the kind of, they call them hardy genes that we can survive famine. It’s so interesting that that study really supported that theory.

Angela:                 Absolutely. I heard you talk on the holistic pregnancy something about that as well, and I thought, “Oh, I wonder if that’s kind of linked together,” because obviously if you can alter your lipid and insulin management, that means that you have telemeds, which are all about extending your life. Again, this is all about survival and that’s what we like, because the race, as the human race, is all about surviving and making sure that if these things happen to us we can actually carry on our family line regardless of having some of these problems as well.

Amy:                     Fascinating. Tell us how that may relate to the topic today.

Angela:                 Absolutely. What I’m talking about today, mainly for a lot of people who may be new to this, and apologies to those who aren’t, who know all about this, is MTHFR. What I’m going to go back to really is a bit of a Genes 101, really, so people understand about MTHFR, because each person has about 20,000 sets of genes, and everyone is completely different on the planet apart from twins. Basically, we have different genes, obviously, that relate to different things. I often talk about this in regards to how it’s expressed in terms of the genes being sort of recipes in a book, and the DNA being the bookshelf, and how that’s expressed. We do have lots of different things happening in the body in relation to how some of these genes are expressed, and I mentioned it or sort of alluded to it a little bit to begin with, where I talked about how the environment pulls the trigger, really.

Genetics loads the gun and the environment pulls the trigger, so you may have some of these faulty genes in your makeup, but it’s things like the environment that will actually turn on and express some of these things, and cause some problems particularly in relation to fertility and female problems as well, like having a baby or having PCOS, endometriosis, or fibroids. The MTHFR gene is just one example of this evolutionary situation that’s happened, and some of these gene mutations are actually a little bit like typos. We don’t know exactly why they happen sometimes, but I guess maybe things like famine, and overabundance, and things like that will cause things to change when you’re actually being put together in utero.

MTHFR is one of those genes that is in lots of different positions in the body, but the main areas that they study this gene, the main ones they’re looking at are in position 677 and 1298. Those are the basic areas that they’ve done a lot of research with. Just to give you an overview of what it stands for, and I’m going to refer to it as the acronym mainly because it’s a bit of a mouthful to say. It stands for methylenetetrahydrofolate reductase. It’s the name of the gene, and also it’s the name of the enzyme that also encodes for the gene, so what converts that key important thing that we’re going to be talking today is fertility, which is folate, and that’s actually converted into an active form via this gene into something called 5-methyltetrahydrofolate.

Folate, as you know, is a really important nutrient in fertility and for sustaining life, and many of the listeners will probably be interested in this because they may be taking folic acid at the moment. I’m going to talk a little bit about that later, but folate that you eat needs to be converted many, many times before it’s actually processed by the body at a cellular level. Likewise, this is the same for everything that we have, really, and everything we ingest. We can’t just sort of take it up straightaway. It needs to be converted so we can use it by the body. Having MTHFR expressing affects so many processes in the body, and if you have this mutated gene, or SNP, which is what they call single-neuclotide polymorphism, it’s going to affect how much active folate is available and how you can replicate this to support a growing fetus, or even your own cell replication, so it can cause a lot of problems in the body as I mentioned earlier.

Amy:                     Could you explain to us the difference between folic acid and folate? I’m actually working on a new blog post about a supplement that just hit the market, and on their marketing they talk a lot about the importance of folates in pregnancy, on the product packaging, but yet the product itself has folic acid, so they’re using these terms interchangeably but yet there is, as you noted, a big difference. Can you explain so that we can understand what the difference is between folic acid and folate?

Angela:                 Absolutely. Again, it’s something that’s really misunderstood, even by the manufacturers as well. In some areas, I think in the FDA, they’re trying to shut down the use of the word folate in supplement companies using that, rather than folic acid, because they want to obviously control the fact that folic acid is what they want to promote. Just to give you an idea of what that is, people often say, “Is there folic acid in food,” or “There’s lots of folic acid in leafy greens,” but that’s actually incorrect. Folic acid is a man-made synthetic vitamin, which was put together in probably the late 40s, in response to people having some issues with getting amounts of folate in their diet. Most people would get folate in their diet by having uncooked leafy greens, and that’s basically where folate comes from. It’s called vitamin B9, and it’s not the same as folic acid at all.

Similar to drugs that have the same sort of chemical composition as some of the herbs that you’ll be using for things, folic acid will have the same composition but will actually be recognized by the body as something that looks like folate, but isn’t actually folate or isn’t real folate, as if you were having a bowl of leafy greens or something like that. I just want to put it into context there really, so that people understand when someone says to them folate and folic acid, they are completely different things. One is synthetic and one is completely natural. In the 1970s they started to look into this a lot more, because they saw a link between spina bifida, a neural tube defect, and also folates and the fact that the spinal column closes within, I think it’s a couple of days to a week when it’s being formed, between week 4, 5, and 6.

You basically got a lot of scientists there thinking that this was a big deal, and if they could give women, who may not know at that stage, folic acid, which would then be used in the body to support a growing baby, this would actually improve the situation with people having less spina bifida and neural tube defects as well. I think quite a lot of countries across the world actually took up the potential for this to actually be massed produced and produced to the populations. They actually put it into flours and baked goods in a lot of countries. I think the US did that in the late 80s, early 90s, potentially, and I think a lot of other countries like Canada, Australia, and Chile, lots of South American countries did it as well. So many.

The UK didn’t actually, and we haven’t as such to date, because some of our scientists saw the huge amounts of folic acid that was being used, thought it was synthetic, was possibly linked to incidents of colorectal cancer, with isolating folic acid like that, away from nature, and putting it into a supplement. Sadly, I think it’s been then used in a lot of supplements now and has been in most pregnancy supplements that I see that are standard supermarket ones, or basic ones that your midwife or doctor will support will have folic acid in there, to a recommended daily allowance, but basically to support what they see is the research behind reducing the level of children born with neural tube defects.

Amy:                     I would really encourage listeners to take a look at their supplements, and take a look … If you are on a prenatal, if you’re taking a multivitamin, check and see if you are indeed taking folic acid, or if the supplement contains a natural folate. I know that that was very important for me when I was developing my line of supplements that it would have folate rather than folic acid. Also, maybe you could talk to us about B12. That’s a vitamin that many women with PCOS are deplete in, and possibly due to the fact that metformin, which many, many women with PCOS are on, depletes B12, but also with 60% of the population possibly having that MTHFR mutation, you need a special form of B12. Isn’t that correct, Angela?

prenatal bundleAngela:                 Absolutely. Basically, B12 and a lot of the other B vitamins are what they call in the nutritionists’ world, cofactors. They will support the overall process of DNA replication, which happens … it starts with having leafy greens or a supplement, like your supplements have in the methylfolate. B12, again, as you mentioned, a lot of people that have PCOS are taking metformin to help manage the insulin and support them to ovulate properly and all of the other symptoms that they’re having with that, but as you rightly said there, metformin, like many drugs, will actually rob you of quite a lot of your nutrients. It’s not just people who are on metformin that have low levels of B12. It’s quite prolific out there in the public, people having very, very low levels of this.

If you’re quite a strict vegetarian you probably have low levels of B12, because you get this mostly in animal products. It’s really important for people who are not necessarily following a very good diet. They may have a kind of standard American diet, and aren’t eating all the greens, and lots of veggies and fruits, and also having good-quality protein as well, that they actually supplement with B12. Again, the right version of that is important because most supplements you will see will actually have something called cyanocobalamin in there, which isn’t really my favorite form of B12, and like every supplement that you look at they will have a factor in there that sort of helps you process the vitamin or the mineral better.

I actually prefer a version called methylcobalamin, cobalamin meaning the B12, and also hydroxycobalamin, or adenosylcobalamin. Those are the versions that are in the active form, which means that they bypass lots of different processes and transformations in the body and they can actually be absorbed fairly quickly in there without having to have enzymes breaking them down and supporting that. Again, this is something that lots of people with PCOS are very deficient in, and they’re deficient in a lot of the B vitamins as well. Most of those like B2, B3, B5, and B6 are really important for maintaining weight, and managing that as well, and helping you to break down the fat that you’re eating, and sugar into energy, and basically supporting something else called glucose-tolerance factor, which will actually feed your body in terms of allowing it to break down and metabolize fat in the body and support you to lose weight and to help you balance your fertility as well.

Amy:                     Just to summarize, if you are oneof that 60% or if you have that MTHFR genetic mutation and you can’t methylate the B vitamins, you really need to have vitamins in the form … of Bs, in the form of methylfolate and methylcobalamin, or the other cobalamins that you had mentioned.

Angela:                 There’s lots of cobalamins in there really, but any of those forms are really good, and some people may have problems, as you mentioned, methylating some of the active forms and that’s where having something like hydroxycobalamin or adenosyl would be more preferable for them. I think most people generally, if you start them off slowly, can actually manage these forms of the active B vitamins like methylfolate, and methylcobalamin as well. Both of those are really, really important for supporting that process where the body can break down some of the things that you’re eating to allow you to gain energy and support some of the cellular systems in the body.

Amy:                     Mm-hmm (affirmative). Let’s move on to women who … I want to talk about how MTHFR affects women trying to conceive, or even women that have suffered multiple miscarriages. Is that something that women should advocate to have checked with their physicians-

Angela:                 Yeah, absolutely.

Amy:                     … if they know that they have that genetic mutation? Yeah. Go ahead.

Angela:                 I would say so. I think you’re ahead of the curve in the US, which you’re lucky with, really, Amy, and the listeners really, because in a lot of places in the US you can actually tested for this as part of your insurance. Unfortunately in the UK it’s not something the National Health Service will actually support straight off the bat, if people are having multiple miscarriages. I think the research, and a lot of it comes out of the States, around MTHFR mainly around a really … a clever guy called Dr. Ben Lynch, who is a cell and molecular biologist. He basically started looking into this probably about 5 or 6 years ago, and he started advocating it. He’s a naturopath himself, so a lot of the stuff that he supports in his research looks at the importance of testing for this to see if you have this, if you do have problems with estrogen dominance, or if you have something in the family that looks at infertility and problems with getting pregnant, and even things like PCOS.

In order to replicate DNA, having folates as I mentioned before, is really important. I think when we’re trying to conceive we all know that … we’re sort of told that folic acid is the important thing, but again, as I mentioned earlier, it is folate really that’s the key that the body will recognize to allow this to happen. It’s such an important thing in the body to basically … to understand when you’re going through that process or even trying for it, to build up your levels of folate by having lots of leafy greens. Also, if on top of that you have an MTHFR mutation, to get your physician, your GP, or your reproductive endocrinologist to actually test you for this particular gene. You can get a blood test, but you can also get something which looks at lots of other genes, which I’m going to talk about later, through a saliva test called 23-ME, which will actually pinpoint only those specific genes that are actually mutated.

It’s a really important thing to do, I think, right from the start, is to get lots of testing done to see where you’re at in terms of your hormones, what’s happening, that particular point in the month for you, and get those tested regularly to see whether you are actually having problems with MTHFR, because, as I mentioned earlier, it doesn’t necessarily mean that you’re going to have a problem when you have got an MTHFR gene, but if you’ve had things like multiple miscarriages, or pre-eclampsia, and previous pregnancies or other things like gestational diabetes or any inflammation, like for instance autoimmune things like Hashimoto’s or thyroid problems, to actually look at all of these things in unison really, and see if there is a correlation there.

Because there is a lot of people in Italy and the Mediterranean that have MTHFR, but they don’t tend to have as many problems chronically with their health, because their lifestyles seem to be a lot less stressful, and their diet is deemed the best in the world, the Mediterranean diet. I think it’s really important to get tested, but also to take that on board only if you seem to be having some problems with fertility or your PCOS is causing some problems with your fertility, because there are some people that have PCOS that don’t have any fertility problems at all. I know Victoria Beckham is one of those. I think she’s notorious as somebody having PCOS, and she doesn’t have problems getting pregnant at all. Again, she may have some genetic mutations and this is something that people need to look at, really.

Amy:                     Maybe you could help listeners … provide some information that they could take, maybe after the calls, some links that they could take to their doctor, because I believe that we PCOS Divas have to have the knowledge and be empowered so we can advocate for ourselves. As I mentioned early on in the call, so many doctors haven’t even heard of MTHFR. I know I had asked my doctor if he would test me and he said, “MTH what?” He had no idea. This is my general practitioner. I just returned from the annual meeting of the American Society for Reproductive Medicine, and granted there is hundreds of different sessions, and I did actively go through the conference session outline looking for something about MTHFR and fertility, and did not find anything.

If our reproductive endocrinologists aren’t hearing about it at their annual conference, then it’s really up to them to be on the cutting edge of what’s going on in reproductive medicine, but sometimes we have to bring that research with us and advocate for ourselves. You mentioned testing, so maybe you could let us know how do we go about advocating for testing and what type of tests should we be asking for?

Angela:                 Absolutely. I think you had a ton of guests on here probably, who talk about testing and what’s appropriate for your condition. In terms of fertility, some of the areas I’ve been discussing, one of the best steps you can do is to get your practitioner to understand that you’re on board with them, and you’re happy to work with them to do a little bit of research, and have somebody that you work with, that understands that you’re somebody that has an inquiring mind, and if they’re not going to be helpful, then my suggestion is find somebody who will be. I know it’s sometimes difficult to find a good doctor, but there are lots of doctors that are trained, and are being trained by this guy I mentioned earlier, Dr. Ben Lynch. He’s doing a lot of physician training around the country in the US. He does have a site where you can actually check somebody who is a doctor, an MD who understands a little bit more about this.

These are the people that are going to be much more clued up about what’s happening to their patients, and looking and delving deeper into not the usual things like just testing people for FSH and LH. They’re going to be looking at the link between the thyroid and PCOS, the link between MTHFR and PCOS, and also estrogen dominance. My advice would be … is to find a physician that you can actually work with, that will actually take you seriously when you go into the doctor’s office and say, “I’ve been reading up on MTHFR,” or “I’ve been reading up on my thyroid, and I wonder if you can test me for this so that we can link this together and hopefully eliminate this if it’s something that … isn’t something that’s causing problems with my fertility.”

Having a blood test is great. You can get that obviously through insurance, and also going through the thing that I mentioned earlier, a 23andME. It’s actually a company that was set up to look specifically at areas that some of the doctors weren’t necessarily looking at. It’s very cutting edge, and what they do is they will test your saliva and they will look at that in relation to some of the more common gene mutations that were outlined in the Human Genome Project. They’re doing a lot of research with drug companies as well, because I think this is important. Some drugs obviously won’t work for some people, and a lot of the stuff they’re doing at the moment is all about drugs that work for people that do not have some of these mutations, and some of these mutations can cause problems with absorption or may be an issue with them.

Again, it’s the future of modern medicine, I think, looking at your genes and seeing whether you have any issues with them. Again, like I mentioned, just go to your doctor, have a really candid chat with him and say, “I’m looking at this in a much deeper level. Will you be happy to be on board with me on this when I come up with something, and take me seriously?” Which I think it’s worth its weight in gold, really.

Amy:                     Mm-hmm (affirmative). Yeah. I think that’s great, really great if I seem … I think it is true. Your doctor is ultimately, at the end of the day, working for you and if they’re not, then we do need to find somebody that will. Angela, if somebody wants to work with you in your fertility practice, how can they reach out to you and how can they work with you?

Angela:                 They can come to see me via my website. My website is www.fertileground-nutrition.com, and you can reach me via a message there. You can send me a contact, so if you are interested in working with me. There’s loads of information on my site about the topic I’ve been talking about today, MTHFR genes, and mutations that may be hindering your fertility, and maybe that final piece in the puzzle that you may be interested in taking forward. There’s also lots of information on lots of different areas as well. I think, have a look at my website and see if it resonates with you, and if it does, I’ll be happy to hear from you.

Amy:                     I know you’ve already written a guest post about MTHFR and fertility for PCOS Divas, so we’ll be sure to link that under the podcast as well, if somebody wants to dive in a little deeper.

Angela:                 Absolutely. There’s also something I’m looking at at the moment, which hopefully I’ll be able to give to you guys, which is an e-book at looks at genetics and PCOS, and it’s not looking just at the MTHFR side of things. It’s looking at things like the CYPD genes, and also the COMT genes as well, some of the detox pathway genes that relate to estrogen metabolism in the body, which is a really fascinating subject for me.

Amy:                     Wow. That sounds really interesting. Maybe you can come on and talk to us about that when you’re ready.

Angela:                 Sure, sure, if you’re not bored with me already, Amy.

Amy:                     I’m not. No, this is great. I also wanted to give a little plug to the Facebook Fertility Group that you help moderate. Maybe you could tell listeners about that as well.

Angela:                 Sure. Absolutely. I also volunteer on, I think one of the largest PCOS sites on Facebook, PCOS Fertility Support, and I give support on that in regards to some of the ladies’ questions and queries about things, as much as I can, because there’s about 6,000 people on there. Feel free to find that on Facebook. There’s often people asking questions for Amy as well when she’s got time to do that, so I know she kind of dips in as well and has done, in the past done some sessions where she’s talked to some of the people on Facebook there.

Amy:                     Yeah. It’s a really nice group for women looking for positive support in their fertility journey with PCOS. I think it’s a unique Facebook group out there. Thanks for your volunteer work there, Angela.

Angela:                 Thank you. I actually love doing it. I wish I had more time. I wish I could clone myself and do more, but I think at the moment it’s not possible, genetically anyway.

Amy:                     I know how you feel. Thank you everyone for listening, and I look forward to being with you next time. Thanks, Angela.

Angela:                 Thanks, Amy.

Amy:                     Bye, bye.

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