MTHFR – What is it and how can this affect your fertility? - PCOS Diva
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MTHFR – What is it and how can this affect your fertility?

MTHFRI met Angela Heap during the Fertility Focus Telesummit earlier this month.  She spoke about how your genetics may be blocking your fertility and how lifestyle and good nutrition can provide a solution.  I have recently been doing research on MTHFR, which Angela will be explaining in her article below, and how it may relate to PCOS. It is still to be determined whether or not there is a connection with PCOS.  However, as you will soon discover, a large percentage of the population has some variant of the mutation and it may be a good decision to take Methyl folate, or 5-methyltetrahydrofolate instead of folic acid.  

Guest post by Angela Heap

MTHFR is a gene. It stands for Methylenetetrahydrofolate reductase (MTHFR) Details about this transferation process and the sheer importance it has to our survival have only emerged in the last 10 years, the result of finally mapping our genes as part of the Human Genome Project.

We are all so very unique, an original in fact. Science has helped us to understand so much more about our bodies in the last 50 years. Our self-awareness and insatiable appetite for knowledge through the media and the internet has helped us to become our own health detectives and as part of this, enabled us to understand so much more about defects, and chromosomal abnormalities. However for many people when you start talking about ‘inherited genes’ and chromosome abnormality that’s where their interest and knowledge stops and the conversations become taboo.  But what if there was a way to find out if you had been labelled with fertility issues and also had a history of certain disease patterns in your family and hadn’t put two and two together here? Wouldn’t you want to dig deeper to see if there really was a genetic reason behind some of your reproductive issues and what’s more, try to look into how to improve this? When the Gemone Project first started mapping all our genes in the 1970s it was thought that our genes were our blueprint and whatever we had inherited, was our lot. Nowadays we know that 30% of disease may be linked to genetic inheritance, 70% is the environment.

Powerful stuff!  We are nearer to the movie Xmen than you think, as 1 in 4 of us will have some form of polymorphism  (mutation) that may or may not predispose us to a higher risk or chronic disease should we be complacent with our health.  Your genes can’t be changed, but your environment can. This emerging field in Functional Medicine is called Epigenetics and relates to how your environment, your diet and your lifestyle choices can actually affect your health and actively turn on and off genes. Epigemonics relates to how to you can work around these issues and improve our situation, if in fact you do have mutations. Some would say it seems almost like an Aldous Huxley novel and that finally being able to identify your own genetic code, your “blueprint”, means you are transported right back to your ancestors clearly showing our DNA hasn’t changed much in over 100,000 years. Its easy to forget how primal we are and when we look into genetics it’s a stark reminder that we aren’t as modern as we think!

Personally, I think knowing this about yourself is the future of medicine and eventually this is the route that even mainstream medicine will go down. It’s another way to utilize the results of the Human Genome Project. We are all so very different from each other; and I’m sure you’ve all heard the phrase ‘ one person’s medicine is another person’s poison’. All the more true when it comes to suggestions based on your own genetic profile in regards to diet and lifestyle.



Genetics 101

In order to delve into MTHFR it is often a wise move to talk about the basics of genetics at this point, to set the scene. To make new cells, an existing cell divides in two. But first it copies its DNA so the new cells will each have a complete set of genetic instructions. Cells sometimes make mistakes during the copying process – kind of like typos. These typos lead to variations in the DNA sequence at particular locations, called single nucleotide polymorphisms, or SNPs (pronounced “snips”).

Some of these variations are functional like for eye colour, some have little or no impact and others can cause devastating health issues and down the line these impacts can lead to fertility problems.

What is MTHFR and What does it do?

Studies began to emerge about MTHFR and linking it to many vital systems in the body from around  2005. It is one of the most widely researched mutations. One search alone in PubMed will bring up pages of peer reviewed journal entries on this gene and its function.

In short MTHFR provides instructions for methylating – (either donating a methyl group or taking one away in the body for it to function). In order to keep the cycle going the folate you eat has to be converted via many steps to the active folate 5-MTHFR

( 5,10-methylenetetrahydrofolate (folate/folic acid/vitamin B9) to 5-methyltetrahydrofolate (methylated folate).

Folate is such an important nutrient for fertility and sustaining life! It’s part of the raw ingredients needed for DNA to work!

However there is a problem. Not only do some people test positive for the MHFR mutation, which means in some cases they have a 70% loss of function of this gene. Many are systematically ingesting folic acid via processed food and by eating this,  instead of helping to support DNA replication it will occupy the receptor sites in many people with the mutated gene and not allow this to cross the blood brain barrier for the substance to be used, further reducing the genes capacity for vital DNA transferation to happen, in effect slowing their bodies ability to grow and repair.

Having MTHFR expressing affects this process hugely. So if you have a mutation in the gene then its going to be affecting how much active folate you have available to help replicate and support a growing foetus as even your own cell replication is suffering here! Over time chronic health issues may not be far away also.

If you wanted to look into this further – folate breakdown is part of something called the methylation pathway or cycle where other cofactors come into play such as lipids, B12, B6, amino acids and their metabolites there is an excellent explanation on this here.

There are currently a total of 34 mutations in MTHFR.
The MTHFR gene sits on Chromosome 1. There are two key variants that are tested for (as at this stage there is little or no research on the others).PCOS prenatal supplement

Folic acid?      

I want to put the folic acid issue in context now which I mentioned earlier. In the 1970s studies into soaring spina bifida and Neural Tube Defects (NTDs)  had a ‘eureka’ moment and decided the key to solving all these issues was to add synthetic folic acid to the mass population through food. So in the late 1980s it was decided by public health officials in the US, Canada and Australia as well as a number of other countries, that folic acid would be added to all baked goods, cereals, and bread as a mandatory measure. (1) The UK was cautions due to scientific reporting of higher incidents of colorectal cancer being seen with isolating folic acid. Manufactures in the UK do add folic acid to some food and contrary to popular belief it is not mandatory here.(2,4) After  this issue was reported in medical journals from around 1993 many Doctors and Midwives started advising women of childbearing age to take folic acid, to help improve what  they saw as more children being born with NTDs.

As I mentioned above folate is such an important base ingredient for our vital DNA replication, but needs to broken down at least 5 times before its available in the active form of 5 MTHFR.

Folic acid is right there at the bottom of the pile in terms of getting broken down to a usable form for the body. Today it is widely used for the ‘preconception’ pack to potential mothers, is a synthetic formulation of a natural substance and in an ‘inactive’ state and in short many people with MTHFR mutations may not be able to break this down and convert it to the active 5-MTHFR in their bodies. In this instance giving folic acid  to people who have polymorphisms  around MTHFR may cause an even worse situation and may also not solve the issue of NTD or spina bifida. NTDs are a result of the mother not getting enough folate to the growing foetus and can result in foetuses not fusing the cord and spinal connection around this. ( 3)

Source: Center for Disease Control.

Some hematologists when they do in fact test for MTHFR and get a positive, suggest even higher doses of folic acid, which shows a fundamental misunderstanding of how to use nutracuticals to support the MTHFR gene. If I can use an analogy, giving someone with Homozygous MTHRF Folic Acid (is like putting a JCB digger truck down the 2 lane filter road to an 8 lane highway, i.e. its not meant for the highway and is also very slow and makes everyone around it v angry!) in short this then further clogs up the methyl pathway and causes issues all over the body.

What next?

As much as 1 in 4 people have mutations to the MTHFR gene and so having the inactive form folic acid is like pouring oil on an already growing fire. So for now I would build up on natural folate and eat what nature intended, until you get the chance to test and see what’s going on there! Here are some natural forms of folate that each give you around 100mcg of  folate, having a few of these daily will give you lots of ‘real’ folate that is already in the active form! Also remember that cooking destroys folate, so I find a smoothie with some of these ingredients can help you get your daily requirements of folate. However things like beans may be a little harder to digest uncooked!

  • 1 cup Brussels sprouts
  • 1 cup cooked collard greens, mustard greens, or green peas
  • 1½ cups cooked broccoli
  • 5 spears asparagus
  • ½ cup cooked spinach
  • ½ cup avocado
  • 1½ cups shredded romaine lettuce
  • 2 ounces sunflower seeds
  • ¼ cup cooked lentils
  • ½ cup cooked black beans, kidney beans, or chickpeas

Also be a good health detective and don’t eat anything processed, chances are its been bleached, deodorized and all the nutrients stripped out of it so they have to then add them back in in a synthetic form – and that’s when you see things like folic acid in juices, milk, breads and other goods.  It is also worth noting it’s not just about the ladies. Partners/Husbands/boyfriends or sperm donors also play a huge part in this as they give the child 50% of its DNA, so they have to look into this also.

We have so many genes, so how can we know which ones to focus on fertility? There are a few Dr, biochemist, naturopath and a pioneers in the field of Nutrigenomics but this truly is a new area, and sometimes even physicians are new to this, so you may find if you take your newly found knowledge along to your Doctor’s office you may get a blank face when you give them the low down on your SNPS!,

Out of the huge array of genes we are faced with there are about 30 or so genes  that have a major influence on chronic health issues and around up to 10 of those will indirectly effect fertility (MTHFR being one of them) .

These genes are mostly related to methylation which is a fundamental pathway in the body involved in gene expression, detoxification, RNA regulation, protein function and many other biochemical processes. In this way methylation underlies aging, digestion, inflammation, energy production, immunity and more. As reproduction is a key to all of these functions it’s important to get these right or we may have difficulties reproducing or carrying babies to term.


Further information

  • The guru on MTHFR is Ben Lynch ND, he has extensively researched  MTHFR and is a cell and molecular biologist. He presents and talks about MTHFR internationally.
  • Amy Yasko MD works in and around MTHFR from the perspective of chronic health issues and a son with Autism.
  • Visit the Facebook page  set up by Sterling Hill who was a patient of Dr Ben Lynch with MTHFR and has now set up the support page for all to share in this journey. There are often comments pertaining to fertility and miscarriage on this site
  • Visit my website if you want a little bit more information on genomics before you jump down the rabbit hole into a full on genetic analysis. I recently spoke at the Fertility Focus Summit on genes and fertility in early May 2014 and produced a free report on this. You are welcome to download this for free here:


1.Harvard School of Public Health.

2.Bland J. Systems biology, functional medicine, and folates. Altern Ther Health Med. 2008 May-Jun;14(3):18-20. Review.

3. Center for Disease Control (CDC). IMMPACT Project.

4.Lightfoot TJ, Barrett JH, Bishop T, Northwood EL, Smith G, Wilkie MJ, Steele RJ, Carey FA, Key TJ, Wolf R, Forman D. Methylene tetrahydrofolate reductase genotype modifies the chemopreventive effect of folate in colorectal adenoma, but not colorectal cancer. Cancer Epidemiol Biomarkers Prev. 2008 Sep;17(9):2421-30.


Angela OrangeAngela is a qualified Nutritional Therapist graduating from the College of Naturopathic Medicine in London after 3 years of intensive studying and 200  hours under Australian Naturopaths in a clinical setting. She is a member of BANT which is a regulated body through the British Association of Nutritional Therapists ( BANT).

Angela set up Fertile Ground Nutrition many years ago as a response to an overwhelming amount of clients coming to her with issues around conception and miscarriage. She specialises in fertility, hormonal management, pregnancy, baby and child health treating many UK and international clients. As a practitioner she applies a mixture of Naturopathic principles and a functional, diagnostic and scientific approach to food and nutrients.

Over the last 6 years Angela has strengthened her development and knowledge of fertility by honing her skills and diagnostic tools, focusing heavily on genetics as the key that opens the lock to infertility. Digging deeper into this area she completed training on genes, epigenetics and using DNA testing to help add the final piece to the puzzle of ‘unexplained infertility’. Angela applies her expert knowledge gained from this training to develop tailored and structured programmes for each individual client which, to date, have helped many with long term infertility to deliver healthy babies.  Angela had an 80% success rate in 2013 which she hopes to continue in 2014.

Angela also works closely with a number of internationally renowned experts in the field of fertility and is part of a global network of practitioners that work around using DNA analysis, which ensures she has a wealth of cutting edge knowledge at her finger tips which she applies directly to each and every client. Angela is a lecturer at the College of Naturopathic Medicine, with a particular focus on fertility and child health.  She also regularly speaks as part of the Fertility Question Time; the largest free fertility event online in the world, where she will be talking as part of the team with The Natural Fertility Expert UK time 8pm on May 29.  For more information on Fertile Ground Nutrition visit 


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7 responses to “MTHFR – What is it and how can this affect your fertility?”

  1. Hi Amy – great article. 23andme tests for the MTHFR mutation. The website also has message boards where members can ask each other about their experience and knowledge of MTHFR. I highly recommend the test ($99 covers hundreds of genetic tests).

  2. This is really informative, thanks! I have a question. I take a food-based pre-natal vitamin (New Chapter) so it has folate, instead of folic acid in it. Is that as good as eating foods with folate in them? I try to eat lots of those also, but just wondering if the vitamin helps too.

  3. Hello:
    Thank you for this article. It has tons of great information.

    As I was reading I was confused by the section related to the suggested foods to provide folate:
    “Also remember that cooking destroys folate, so I find a smoothie with some of these ingredients can help you get your daily requirements of folate. However things like beans may be a little harder to digest uncooked!
    1 cup cooked collard greens, mustard greens, or green peas
    1½ cups cooked broccoli
    ½ cup cooked spinach
    ½ cup cooked black beans, kidney beans, or chickpeas”

    In the paragraph above it states that cooking will destroy folate, however the foods mentioned several suggest cooked versions.
    I would just like to confirm if the foods should be left raw or cooked. As the article states, the beans would be hard to digest uncooked, but I question the things like the spinach and broccoli.
    Any information that you can provide will help

  4. Hi, I was diagnosed with PCOS in 2009 and just been diagnosed with 2x C677T MTHFR genes as well (in December 2014) due to having 2 seperate miscarriages following IVF. Is it possible that my MTHFR has caused my anovulatory PCOS, (and the inability I have to get pregnant when I do ovulate – without IVF?) – or are these really two separate issues?