What if you had a gene mutation that could affect your ability to get and/or stay pregnant. You’d probably want to know about it as soon as possible right?

The MTHFR gene (sounds like an acronym for a bad word huh?) has gotten a lot of attention in the functional medicine world for it’s effect on mental health but I feel like every woman also needs to know about it’s implications for their reproductive health.

Unfortunately, the discovery of a MTHFR mutation comes after trying unsuccessfully to get pregnant or having one or several miscarriages. I would like to prevent that for as many women as possible.

When I found out I had this mutation I finally felt like I had answers to all the problems I’d experienced my whole life! It was such a relief. Hopefully this info will be helpful for you too!

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

To get tested for gene mutations like the MTHFR I recommend taking this at home DNA test from Nutrition Genome. It’s the most comprehensive
analysis on the market, covering 85+ clinically relevant genes across all of the major biochemical pathways.

This is what you’ll get;

  • Proprietary DNA Test Kit, with easy to use saliva cheek swab for toddlers through seniors. We test 85+ clinically relevant genes across all of the major biochemical pathways.
  • A digital 50+ page evidence-based analysis to customize your diet and lifestyle based on your genetics. This report includes:
  • Cutting edge nutrigenomics research and analysis on each of the 85+ genes tested.
  • Personal strengths and weaknesses breakdown. This easy to read overview on your genetic variants give you an encouraging snapshot into your body’s biochemistry with actionable solutions to turn weaknesses into strengths.
  • Personalized DNA-Based Grocery List, providing insight on foods that encourage healthy genes function, and foods to avoid based on your personal gene expression.
  • Toxins / food additives to avoid
  • Recommended Blood Work

Alternatively you can get your B9 (folic acid) and B12 levels checked. Your B12  should be 800-1500 pg/mL. Folate ranges vary greatly from lab to lab but should be above 8mcg/L.  I recommend this At Home Vitamin Test by Lets Get Checked which will test your folate, B 12 and your Vitamin D levels.  Be sure to use code Hormones20 to get 20% off the price of the test.

If either B9 or B12 is elevated, this could indicate MTHFR mutation(s) based on the fact that your body is unable to utilize the synthetic forms of these vitamins and their levels rise.

What is MTHFR?

MTHFR is actually a very common genetic defect that affects nearly 50% of people mildly and approximately 25% of people seriously.

According to Dr. Ben Lynch, the leading authority on MTHFR in the United States (I might have just made that up but he’s seriously ace!), “The MTHFR gene has a simple, but highly critical, function surrounding how your body utilizes folic acid and other forms of folate.”

Here’s how it works – The MTHFR gene produces the MTHFR enzyme which is necessary for the proper utilization of folic acid or folate (vitamin B9). The MTHFR enzyme breaks folic acid down into L-methylfolate to make it usable by the body. This whole process is known as methylation.

Methylfolate is a critical nutrient affecting neurotransmitter production, DNA regulation, immunity and the cardiovascular system. Indirectly, methylfolate affects hormone levels and detoxification.

If you have a MTHFR mutation your ability to break down and utilize folic acid and even folate is compromised. This makes you susceptible to a wide range of problems like depression, post-partum depression, anxiety, difficulty conceiving, miscarriage, migraines, a variety of cancers, inability to detoxify properly, anemia, and much more.

There are quite a few gene variants but two in particular are problematic, C677T and A1298C. You can have one or two mutations on the 677 or the 1298 or you might have a mutation on both the 677 and 1298, depending on if one or both parents passed the gene onto you.

Just to clarify, these are the most common mutations that show up most often (there are more but I’m trying not to overwhelm you!):

  • MTHFR 677CC = a normal MTHFR gene 
  • MTHFR 677CT = a heterozygous mutation which is one mutation – 30-40% loss of function
  • MTHFR 677TT = a homozygous mutation which is two mutations – 60-70% loss of function. This is what I have and I def have some issues
  • MTHFR 1298AA = a normal MTHFR gene 
  • MTHFR 1298AC = a heterozygous mutation which is one mutation – some loss of function but the research is not conclusive
  • MTHFR 1298CC = a homozgyous mutation which is two mutations – 40% loss of function.
  • MTHFR 677CT + MTHFR 1298AC = a compound heterozygous mutation which is one mutation on two different parts of the gene – 40-50% loss of function
  • MTHFR 677TT + MTHFR 1298CC = a compound homozygous mutation which is two mutations on two different parts of the gene – I couldn’t find much info on this one.

Can the MTHFR gene mutation affect my ability to get pregnant?

First of all, it’s important to understand that this gene affects many bodily functions because it resides in each and every cell of your body.

Second, methylfolate is the nutrient which starts a series of critical enzymatic reactions. So if you have one of the mutations above and you’re deficient in methylfolate, and/or methylcobalamin (VItamin B12) you might run into some problems.

Here’s a breakdown:

MTHFR and Homocysteine

The MTHFR C677T gene mutation significantly contributes to elevated homocysteine levels. My understanding of the research is that the MTHFR A1298C does not affect homocysteine levels. HOWEVER, I’ve seen a couple of women who have the 1298 mutation with higher levels of homocysteine, so don’t rule this out.

Homocysteine is an amino acid and by-product of protein breakdown, and when present in high amounts, has been linked to heart attacks and strokes.

What’s not often discussed is that elevated homocysteine is a risk factor contributing to recurring pregnancy loss, pre-eclampsia, placental abruption, infertility, neural tube defects like spina bifida and other serious pregnancy-related concerns.

In fact, approximately 20% of women who have a child with a neural tube defect have abnormal homocysteine metabolism (1).

MTHFR and Methionine

Methylfolate and methylcobalamin help convert homocysteine into methionine, an amino acid responsible for processing fats and maintaining liver health by helping to remove heavy metals and toxins from the body.

As you can imagine, less methionine is no bueno – it can lead to heavy metal and toxin buildup in the body which can raise your risk of arteriosclerosis, fatty liver degenerative disease, anemia, increased inflammation, chemical sensitivities and increased free radical damage.

All of this creates a pretty inhospitable environment for a pregnancy.


Also, methionine is converted in your liver to SAM-e (s-adenosylmethionine), which is anti-inflammatory, supports your immune system and helps produce important brain chemicals serotonin, dopamine and melatonin. You might know it as a common supplement taken to help depression.

In fact, in clinical trials, SAM-e has been shown to be at least as effective as prescription antidepressants, but with far fewer side effects. SAMe has also been shown to confer enormous benefits to the brain, liver, and joints, halting and even reversing various degenerative conditions, from osteoarthritis and neurodegeneration to nonalcoholic fatty liver disease (2).

According to Dr. Ben Lynch, adequate SAM-e is needed to produce CoQ10 (for egg quality) and l-carnitine (for sperm health). These same nutrients are recommended to people who are trying to improve their fertility.

This is pretty huge right?!

MTHFR and Glutathione

In addition to all this, if you have a MTHFR mutation, homocysteine is poorly converted to glutathione, which is your body’s master antioxidant and detoxifier. Lowered levels of glutathione are linked to all of this and more:

Oxidative stress, toxin and heavy metal build-up, immune dysfunction, thyroid problems, lowered synthesis of choline, creatine, carnitine, CoQ10, slow brain processing speed, low red and white blood cell counts, hair loss, poor digestion and absorption and other symptoms.

This makes you more susceptible to an insane list of diseases and conditions like cancer, fibromyalgia, chronic fatigue, many auto-immune conditions and chronic viral infections to name a few.

In fact the conditions linked to MTHFR are almost identical to those linked to low glutathione.

A breakdown in these crucial bodily processes due to MTHFR mutations along with deficiencies in B9 and B12 in particular can bring on a wide range of conditions surrounding a woman’s hormonal and reproductive function:

Effects of MTHFR mutations on reproductive health:

  1. MISCARRIAGE – Deficiency in B12 results in infertility by causing changes in ovulation or development of the ovum or changes leading to defective implantation, and ultimately miscarriage. As I said above, many women with this mutation have multiple miscarriages before finding out the main cause is this gene. Also, one of the key functions of the MTHFR gene and folate is to oversee the production of healthy DNA, which is crucial during fetal development. This is one reason the mutation is likely to cause miscarriages in the absence of adequate methylfolate.
  2. BIRTH DEFECTS – Deficiency in Folate (B9) can result in pre-eclampsia, neural tube defects, down syndrome and cleft palate in babies.
  3. MENTAL HEALTH – Depression, anxiety, PMS, PMDD, post-partum depression, chronic fatigue and fibromyalgia. Pregnancy can exacerbate a B12 deficiency because high amounts of B12 are needed by the fetus, thus leaving the woman more depleted than she was pre-pregnancy and setting her up for post-partum depression and other mood disorders.
  4. ANEMIA – Higher rates of anemia caused by B12 deficiency in women who are still cycling and women who are pregnant.
  5. THYROID PROBLEMS – high copper and other heavy metals caused by the body’s impaired detoxification process can inhibit thyroid function. I’m gonna quote Dr. Lynch here because he explains the direct link between thyroid and MTHFR so well…“If one is hypothyroid, then the individual will have a sluggish MTHFR enzyme as well – even if this person does not have the MTHFR polymorphism.Thyroid produces T4/thyroxine. Thyroxine helps produce the body’s most active form of vitamin B2, flavin adenine dinucleotide (FAD). Vitamin B2 must be converted into active FAD by thyroxine in order for the body to effectively use vitamin B2. The connection between FAD and MTHFR is that the MTHFR enzyme must have an ample supply of FAD in order to function.  If FAD levels are low due to low thyroxine, then the MTHFR enzyme slows down, causing low methylfolate levels.” (2)
  6. CERVICAL & UTERINE HEALTH – Abnormalities in the cells of the reproductive tract, cervix and uterine lining which may be diagnosed as cervical dysplasia . Research shows that having an MTHFR mutation increases the risk of cervical dysplasia and that having higher folate levels is preventive. Folate is essential for the body to be able to make new healthy cells on the cervix, and it is even more necessary for women who have an MTHFR mutation and therefore a decreased ability to turn folic acid into active folate (3) (4).

What you can do to treat an MTHFR gene mutation

I know this all might seem rather scary but the great thing is you can implement many measures immediately:

How to get tested for the MTHFR gene mutation

1. I used to recommend getting your genes tested through 23andme.com. Unfortunately they changed their test in July 2017 and there aren’t any services to interpret the raw data that they provide in the test anymore. I now recommend Nutrition Genome, an amazing service that offers testing and interpretation of your results. It provides an extensive report on diet and lifestyle changes you can make according to your genetics.

Once on their site, click on Services. You’ll see two options. A full genetic test and report for $299 or the option to interpret your 23andme test results (done prior to July 2017) for $99.

2. Get your homocysteine tested. If it is elevated then you potentially have a MTHFR mutation. You can do this through your doctor. Ideally it should be between 7-8 µmol/L.

3. Get your B9 (folic acid) and B12 levels checked. Your B12  should be 800-1500 pg/mL. Folate ranges vary greatly from lab to lab but should be above 8mcg/L.  I recommend this At Home Vitamin Test by Lets Get Checked which will test your folate, B 12 and your Vitamin D levels.  Be sure to use code Hormones20 to get 20% off the price of the test.

4. Get Methylmalonic acid (MMA) tested to confirm B12 levels. B12 is not often a reliable test to determine your actual B12 levels (long story), but MMA will be high when you are B12 deficient.

If either B9 or B12 is elevated, this could indicate MTHFR mutation(s) based on the fact that your body is unable to utilize the synthetic forms of these vitamins and their levels rise.

Recommended diet and lifestyle changes for people with an MTHFR mutation

1. Increase your intake of folate-rich foods – dark leafy greens like spinach, kale, swiss chard, collards, romaine as well as broccoli, asparagus, and brussels sprouts.

2. Greatly reduce or eliminate any B-vitamin fortified foods such as breads, cereals, crackers etc. These contain synthetic B vitamins like folic acid which does not convert well to active methylfolate.

3. Eat as much organic and non-GMO as possible.

4. Avoid the birth control pill because it inhibits the absorption of Vitamin B12. You can check out my Birth Control Protocol: The Ultimate Step-by-Step Solution to Ditching Your Hormonal Contraceptives.

5. Sweat it out – eliminate toxins via exercise, sports, yoga and using a sauna or infrared sauna.

Supplements for MTHFR:

Note: The effects of supplementing with different nutrients can vary tremendously due to other genetic defects, dietary and lifestyle choices and environmental exposures. It is important to talk to a physician knowledgeable in MTHFR mutations to get the best advice for your unique situation because not everyone tolerates methylated B vitamins well.

Also, there are many different types of methylfolate so it’s important to make sure you’re getting the best forms:

The best forms of Methylfolate for MTHFR:

These are all the same:

  • L-5-MTHF
  • L-5-Methyltetrahydrofolate
  • 6(S)-L-MTHF
  • 6(S)-L-Methyltetrahydrofolate

These are all the same:

  • L-Methylfolate Calcium
  • 5-formyltetrahydrofolate (Folinic acid)
  • Metafolin
  • Levomefolic Acid

Avoid these forms of methylfolate:

  • D-5-MTHF
  • D-5-Methyltetrahydrofolate
  • 6(R)-L-MTHF
  • 6(R)-L-Methyltetrahydrofolate

Good folate supplement options

Seeking Health makes a folinic acid lozenge which would be a good one to start with if you have a MTHFR mutation.

Designs for Health Liquid Folinic Acid is also a great option. I personally take this one and take it every 3-4 days because I tend to develop anxiety if I take higher doses of folate.

IMPORTANT: You may be sensitive to methylated folate if you have MTHFR mutations. If you feel anxious or on edge once you start them, you may want to cut the dosage in half or spread out dosage the way I have done. Also, please speak to your functional medicine doctor for further guidance.

The best vitamin B complex for MTHFR:

Get yourself a B Complex with the active forms of B2, B6, B9 and B12. I love Thorne Research Basic B Complex which contains all of these. I also like Seeking Health B Complex Plus.

If you’re thinking of getting pregnant or actively trying to get pregnant then you should be taking a prenatal with the active forms of the B vitamins I just mentioned in #4. Thorne Research Basic Prenatal is great and so is Seeking Health Optimal Prenatal.

Additional supplements for MTHFR:


General –
  • http://mthfrliving.com/health-conditions/glutathione/
  • http://www.mthfrsupport.com.au/conditions/
MTHFR and pregnancy –
  • http://mthfr.net/is-mthfr-affecting-your-pregnancy/2013/05/24/
Uterine Abruption –
  • http://www.amjmed.com/article/S0002-9343(04)00168-8/abstract?cc=y=
Cervical dysplasia – 
  • http://www.ncbi.nlm.nih.gov/pubmed/11751445
  • http://www.ncbi.nlm.nih.gov/pubmed/19542191
  • http://www.ncbi.nlm.nih.gov/pubmed/10928104
Thyroid –
  • http://thyroid.about.com/od/MTHFR-Gene-Mutations-and-Polymorphisms/fl/The-Link-Between-MTHFR-Gene-Mutations-and-Disease-Including-Thyroid-Health_2.htm
  • http://mthfrliving.com/health-conditions/thyroid-mthfr/
  • http://www.stopthethyroidmadness.com/mthfr/