The MTHFR Gene Mutation: What You Need to Know to Protect Your Future Baby 

by Nita Ewald

It’s been nearly two years since my first blog about the MTHFR gene mutation and its effects on an important biochemical process that continually takes place in our bodies: Methylation. Methylation is weakened or disrupted in people who have a gene mutation known as MTHFR which is more common than people realize.

mthfr gene mutation

40% of the world’s population has the MTHFR gene mutation. This is why it is important to know about it, especially if you are having health and fertility challenges. You may want to consider being tested for it. This gene impacts more than just fertility but also the fetal development of your offspring.

Let me begin with a closer look at Methylation and MTHFR. (You can also get more background information by reading my first article on the topic, What You Should Know About Your DNA.)

What is methylation?

“Methylation occurs a billion times a second throughout the body, affecting everything from fetal development to brain function. It regulates the expression of genes. It preserves the fatty membranes that insulate our cells. And it helps regulate the action of various hormones and neurotransmitters, including serotonin, melatonin, dopamine and adrenaline. Without methylation there could be no life as we know it.” – “Methyl Magic: Maximum Health Through Methylation” by Craig Cooney.

Methylation is a biochemical process in which the body passes methyl group (CH3) around. Methylation dysfunction due to MTHFR genetic mutation results in a shortage of methyl groups in the body, which can cause a number of health problems, including:

  • infertility (male and female), miscarriages, stillbirth
  • insomnia
  • anxiety and depression
  • schizophrenia
  • fibromyalgia
  • cardiovascular disease
  • chronic fatigue
  • brain fog
  • IBS
  • addictions
  • cancer
  • allergies
  • autoimmune diseases
  • thyroid dysfunction

What is MTHFR?

MTHFR (methylenetetrahydrofolate reductase) is a gene that produces the MTHFR enzyme. This enzyme functions to convert folate through methylation into methylfolate (5-MTHF), the active form of folate that is utilized by the body in so many biological process.

When do you need to be concerned about MTHFR?

If you have been suffering through fertility struggles or experiencing recurrent miscarriages, you should be tested for MTHFR gene mutation. I also recommend testing for those of you with a family history of heart attack or stroke or depression.

People with MTHFR gene mutations have increased risks of folate-related problems in fetal development, such as:

  • neural tube defects
  • thrombophillia (clotting disorder)
  • autism (it’s suspected that 98% of autistic children have MTHFR gene defects)
  • spina bifida
  • Down’s Syndrome
  • congenital health defects

How to get DNA testing?

  • Blood test: Talk to your doctor about getting tested for MTHFR. Some insurance companies may cover this test, especially if you have a history of infertility or recurrent miscarriages.
  • Saliva test: Order a DNA genetic analysis kit from the website 23andme for $99. Through this test, you don’t only get an information about MTHFR, but also hundreds of other SNPs (Single Nucleotide Polymorphism). SNPs are the most common type of genetic variation among people. Each SNP represents a difference in a single DNA building block, called a nucleotide. Note: Insurance companies do not cover this test.

In my practice, in order to optimize my clients’ biochemistry, I have them tested through 23andme, which may include a report, but it doesn’t contain a comprehensive health report. Therefore, further processing of the raw data by another company is necessary in order to get a report of all SNPs. There are quite a few companies that can be used to process and report the results. I use Metabolic Healing ($37).

What to do when you have MTHFR mutation?

Having the MTHFR mutation doesn’t mean that we have a disease. It indicates where our weaknesses are in the biochemistry pathway. The good news is that this can be bypassed through proper nutrition and supplementation, as well as life style changes.

Doctors commonly prescribe supplements without a full assessment and biochemical analysis of your body. Many people, for instance, are prescribed high doses of methylfolate, such as Deplin, MetanX or CerefolinNAC to correct a MTHFR defect. Subsequently, they experience increases in anxiety and other mood disorders. Some doctors prescribe high doses of folic acid, which I find it really surprising (see more on this below).

High doses of methylfolate can be problematic as one can easily become over-methylated, especially if you have COMT (Catechol-O-Methyltransferase) gene mutation. People with COMT gene defect (like myself) have less ability to break down certain neurotransmitters (serotonin, dopamine, and epinephrine). If you have both the MTHFR and COMT gene mutations, it’s more likely that you will be sensitive to methylfolate.

An expert in this field, Dr. Ben Lynch (, recommends to start supplementing with methylfolate slowly and low dosages to prevent side effects. You can also take folinic acid instead, which is a precursor to methylfolate.

Why should folic acid be avoided?

Folic acid is a synthetic form of folate. If you have MTHFR mutation, folic acid is not able to be processed into methylfolate.  And it takes up the receptor sites on cells where real folate is needed. Unfortunately, folic acid is found excessively in processed cereals, pastas, breads, drinks, and even multivitamins.

Getting folate from whole foods such leafy greens such as spinach, kale, swiss chard is highly recommended.


Finding out whether or not you have MTHFR or other genetic mutations is easy and it’s well worth your time to get tested. Knowing you have genetic mutations will not only put you in charge of your health, but also positively affect the health of your children and their children.

Your genes are not your destiny.

Your dietary choices, lifestyle and exposure to environmental toxins play a significant role in your gene expression. You may not be able to change your hardware, but you can definitely reprogram your software.

For suggestions on how to manage your risk of MTHFR gene mutation, read my blog, What You Should Know About Your DNA.

If you have been tested through 23andme and you need guidance on how to best move forward, please don’t hesitate to contact me at

Love and blessings,


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