MTHFR gene mutation and fertility

One of my followers emailed me and asked me if i could do a video and blog post on this topic.  There is a lot of information to cover.  When we start talking about gene mutations and genetic issues it is not always simple and straightforward.  This Fertility Tv episode will be all about the MTHFR gene. 





 Let’s talk about the ways the MTHFR Gene can affect fertility.

Many of us know, hopefully, that folic acid is a key nutrient for pregnancy.  It was actually the whole reason that prenatal vitamins were created in the first place.  If a woman doesn’t get enough folic acid during pregnancy and even prior to conception, it can lead to neural tube defects and spina bifida.  This is why there was a huge push to start supplementing with folic acid and why so much of our food is fortified with synthetic folic acid.

Now, in detail, let’s get to why folic acid and MTHFR are related and how they relate to fertility.  1 in 4 people, both men and women, have an MTHFR gene mutation.  This can impact the body in many ways.

Let’s talk about the ways that it can affect fertility:


-Elevated homocysteine levels

-Lead to miscarriage

-Re-occuring pregnancy loss


-Post partum depression

-Depression and mood issues in general


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MTHFR? What is it?

It is a gene mutation that is a defect on the MTHFR gene.  MTHFR is a gene that is in every cell in the body.  It plays a key role in almost every function that occurs in the body.

For processes to occur in the body we need enzymes, and these enzymatic reactions allow one thing to be converted into another and allow nutrients to be used properly by the body.

The MTHFR gene is a key component in one of those processes because, when it functions properly, it allows your body to convert folic acid into folate or methylfolate (the best form of it).  If you don’t have this gene, or it is compromised in some way, you are not able to convert folic acid into these usable forms.

40-60 percent of the people with this mutation cannot produce methylfolate and this impacts the body’s ability to create SAMe.  This starts a vicious cycle.  The body needs SAMe to create things like CoQ10, carnitine, and creatinine which are essential for reproduction and for fertility.  If the body doesn’t have an effective methylation process, it can create other issues in the body as well.  

One of these issues is an increase in homocysteine in the body, which in turn causes inflammation.  When it homocysteine is elevated, it impairs the body’s ability to produce methylfolate.

Homocysteine is also converted into the superpower of antioxidants – glutathione – the most powerful antioxidant that the body produces.  If you can’t produce it, then your cells are more likely to be exposed to free radicals or oxidative stress.  

When glutathione and SAMe production are affected, it has an impact on your immune system, cellular function and repair, and inflammation.  In turn, your body can’t handle outside stressors and toxins, which leaves it prone to aging faster and the cells are prone to degenerating faster.  This is all important for fertility, reproduction, and holding a pregnancy.  

This is why I call the work that I do with many of my patients “reproductive anti-aging”:

we are affecting things at a cellular level to provide proper nutrients, proper enzymatic function, and healthy cells.  These are the same cells that will eventually become a baby!


How can you find out if you have an MTHFR gene mutation?

An easy test that you can order on your own is 23andme.  

You can also ask your healthcare provider to order it for you if you want to see if insurance will cover it. I order it for many of my patients.


So what do you do if you have it?

  • Eat organically – because methylation is impaired, we want to reduce overall toxicity in the body and this is an easy way to minimize your toxic exposure.
  • Avoid supplementing with synthetic folic acid – prenatal vitamins are loaded with folic acid, and if you cannot convert it into methylfolate, it serves you no good.  Be careful of getting synthetic vitamins, prenatal vitamins with synthetic vitamins, and super high megadoses of folic acid as often recommended by fertility clinics.  This is too much.  Take mehtylfolate and get off of synthetic vitamins. Be cautious about frotitied foods.  Eat more dark leafy greens, beans, liver, and avocado to get more folate.
  • Supplement with carnitine, coq10, cod liver oil, antioxidant blend and/or glutathione
  • Maximize absorption of folate/folic acid by limiting regular consumption of black tea or green tea.
  • Antacids can inhibit absorption and so can the birth control pill.

What else can you do to make sure your body is ready to get pregnant?

Key to Pregnancy Success #1

Find support. Don’t go through this alone. Sometimes, even your partner is not enough… Having the right support group is key for emotional roller coasters like this. This is my private (and secret for anyone who is not in it) Facebook group. If you need to find others going through the same, come join us! It’s free :))

Key to Pregnancy Success #2

Download my best fertility resource… ever!! More than +2500 ladies have it already! The Home Remedies Guide will help you supercharge fertility naturally during your IVF cycle. I go over my favorite fertility techniques you can do at home to improve fertility…starting today! You can get it here. 

Key to Pregnancy Success #3

Find the right doctors! Find the best fertility specialist, who understand your journey and your needs. Not every Assisted Reproductive clinics are the same. Not every doctor is the same. Not every couple going through IVF is the same. Make this journey YOURS. Ask around.(You might know this already, but just in case… I do NOT perform IVF or IUI,  I’m not an IVF doctor. I can support your during your IVF journey though! Helping you getting your body ready, finding the best fertility IVF clinic where you are, providing my guidance and emotional support… I’m a natural fertility doctor but I support your journey to motherhoow whichever it is. I work with many many patients going through IVF, helping them increase their success chances)

That was a pretty information dense topic, and you made it all the way through!  That means that you are probably ready to take the next step in your journey towards a healthy pregnancy.  It can be a lot of work, especially when the desired results are hard to come by.  There is a lot of information to sift through and techniques to put into practice.  

If you are ready to put in the work, but not sure what exactly you need to be doing, then My Fertility School is your answer.  Join me for a 6 week e-course to supercharge your fertility and health.  I will walk you through, offer support and encouragement, help with implementation and get you on your way to a healthy pregnancy.  Click here to know more about my signature fertility program.


If you enjoyed the video and information, and would like to see more, please subscribe to Fertility TV.

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Marc Sklar works with couples who have struggled to achieve pregnancy and has been doing so for over 15 years. As the Fertility Expert, Marc has a Doctorate of Acupuncture and Chinese Medicine. Marc received his training at the prestigious Harvard Medical School – Mind/Body Medical Institute. Dr. Sklar co-authored Secret to Conception and created two informative fertility websites, and We hope you have the opportunity to visit our websites and learn more about our team, our methods, conditions we treat and explanations to many frequently asked fertility questions. Marc is married with two boys currently living in San Diego. He is ready to help if your goal is to start a family!