This Genetic Mutation that Puts Your Health at Risk (over half the population has it)

by | Jan 12, 2023 | Health, Nutrition | 0 comments

This Genetic Defect is Found in Half the Population

Thirty to seventy percent of the population carries a potentially serious gene mutation called the MTHFR genetic mutation. I know what you are thinking…and it does not stand for THAT. MTHFR is a shortened version of the words, methylenetetrahydrofolate reductase. Aren’t you glad it is abbreviated?

The MTHFR discovery is relatively new, and was discovered just recently during the study and completion of the Human Genome Project. Researchers studying genes realized that this widespread genetic defect affected the way we humans metabolize certain vitamins, which can increase one’s propensity to develop certain chronic, and serious diseases including ADHD, Alzheimer’s, heart disease, autoimmune diseases, digestive disorders, and autism among others.

MTHFR mutations have to do with how our bodies process nutrients, namely B vitamins. MTHFR is actually a necessary enzyme needed in a process called methylation. This process converts two important B vitamins, Folate and Folic Acid into active forms that the body can then utilize.

Methylation is a genetic process that is extremely important in cell replication, DNA, and preventing disease processes. These mutations can also cause changes in

neurotransmitter levels in the brain, and hormone levels. MTHFR mutations can affect several health parameters, including cholesterol levels, moods, mental illness, digestion, endocrine functions and more.

This Genetic Reference guide offers a good (but slightly technical) explanation of the MTHFR gene:

            “The MTHFR gene provides instructions for making an enzyme called       methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino    acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important   for a chemical reaction involving forms of the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a             molecule called 5-methyltetrahydrofolate. This reaction is required for the multistep         process that converts the amino acid homocysteine to another amino acid, methionine.     The body uses methionine to make proteins and other important compounds.”

So, in other words, the MTHFR genetic mutation reduces the ability to convert the essential nutrient folic acid or folate into a usable form. This area of study is very new, but there have been literally dozens of health conditions that have possible links to the MTHFR mutations.

MTHFR defects have more than one common mutation, and they can affect everyone differently or, not at all. The two most common and problematic mutations on this gene are the C677T or the A1298C. These mutations are passed to children from either one parent or both parents.

When the enzyme MTHFR is defective, methylation for folic acid, folic acid and B-12 do not occur properly. When folate is not converted into usable form, (known as 5-MTHF) these nutrients cannot break down homocysteine. Homocysteine may be a word that sounds familiar. Homocysteine is an amino acid in the body that is known to cause inflammation, particularly in the heart and blood vessels. As a consequence, homocysteine may damage the delicate lining of the arteries and other cells in the body instead of being broken down and turned into a harmless substance. Unfortunately, elevated homocysteine is a risk factor for heart disease, strokes, and other cardiovascular disease. Elevated homocysteine has also been linked to Alzheimer’s, some cancers, macular degeneration and other chronic diseases.

Inability to utilize folate and folic acid can also lead to a folate deficiency which can cause macrocytic anemia (a type of anemia in which the red blood cells become enlarged), neural tube defects in babies and other problems related to vitamin B deficiencies. Folate primarily helps the body make new cells, by copying and synthesizing DNA. Folate also helps the body utilize other B vitamins, especially B-12.  A folate deficiency can cause anemia, poor immune function, and poor digestion.

How do we know if we have this genetic mutation? While bloodwork can easily pick up this mutation, it is not commonly done as a part of a routine examination—yet. Physicians and health professionals are just now beginning to realize the health implications of this genetic mutation. If you think you have some of the symptoms that may be caused by this genetic mutation, (remember about half the population or more carry some form of this mutation), then you can purchase your own blood test online for about $150.

Otherwise, there is plenty you can do to ensure you are getting the necessary and vital nutrients you need—whether you have carry this MTHFR genetic defect or not.

Your body needs folate, but not folic acid, which is the synthetic form of B9, often found in fortified foods or your standard vitamin. For those who cannot process or metabolize folate, it can actually build up in the body, and create worsening symptoms. The form of folate to look for in your supplements is methylfolate, or l-methylfolate, which means it has already been methylated, and so is easily utilized in the body—whether you have the MTHFR defect or not. Other B vitamins, such as B-12 be taken in methylated form as well, so look for B-12 in the form of methylcobalamin. Those with a folate deficiency are also often low in B-12, and B-6, so finding a good B vitamin with methylcobalamin and methylfolate is wise.

Folate is extremely important before and during a pregnancy, or even if you are just thinking of starting a family. Folate is necessary at least three months prior to pregnancy, and is vital DURING pregnancy, especially the all-important first three months, when the neural tube, brain and nervous system are forming.

Eating a diet high in natural folate (as opposed to foods with added synthetic folate) is very important as well. Foods that are rich in folate include:

  • Garbanzo beans
  • Pinto beans
  • Lentils
  • Leafy green vegetables, especially romaine and other dark green leafy veggies
  • Asparagus
  • Broccoli
  • Avocado
  • Beets
  • Black-eyed peas
  • Liver

You cannot change your genes but being aware is a good start. If you don’t want to get the blood test, and think you could possibly have this condition, start with a high quality methylated B vitamin, eat lots of food that naturally contain lots of folate, and avoid synthetic folate.

  • Focusing on gut health: Especially when the body has impaired ability to use certain nutrients, it is important to focus on gut health so that the body can absorb the nutrients from food as effectively as possible. I personally avoid antibacterial soaps, vegetable oils, processed grains and refined sugars and support my gut with fermented foods and homemade broth. This also helps avoid candida, which can make MTHFR related problems worse.
  • Avoiding environmental toxins as much as possible: Those with an MTHFR gene defect have an impaired ability to eliminate toxins. I avoid plastics, chemicals in beauty supplies and cleaning products, and scented candles, which can all release harmful chemicals. We use houseplants and other methods of cleaning our indoor air, and filter our drinking and shower water.
  • Not taking anything with Folic Acid: As I explained in this post, folic acid is the synthetic form of folate that cannot be used by those with a MTHFR defect and which can be very toxic. I avoid any supplements with folic acid and only take L-MTHF forms, which are the methylated forms that my body can use. I also take a methyl-B12 which is supposed to help the body use L-MTHF.
  • Lots of Leafy Greens: According to Dr. Ben Lynch, dark leafy greens contain the methylated forms of folate that those with a gene defect need. As if we needed more reasons that it is important to consume green veggies… I try to work in green veggies at every meal.
  • Avoid Processed Foods: Again, as if anyone needed another reason to avoid processed foods… Many processed foods have synthetic folic acid added.
  • Avoiding things that can block or deplete folate levels: Certain medications, including hormonal contraceptives can interfere with folate levels, and medicines like antacids can interfere with B-12 absorption.
  • Avoiding Heavy Metals: Heavy metals in diet or environment are harder to remove from the body for those with a gene defect, so I’m careful to avoid these.
  • Help a Body Out: Since those with a MTHFR defect have an impaired ability to eliminate toxins, I do things to help support my body in this process, such as: detox baths, sauna use, drinking enough water, dry brushing my skin and exercise (sweating). I also do strange things like using detox mud shampoo, detoxing my pits, and foot soaks

About Catherine Ebeling: I am Catherine (Cat) Ebeling. I am an RN with a Masters of Science in Nursing and Public Health. I have been studying diet, fitness and health for the past 30+ years–in addition to my clinical nursing experience, which includes anti-aging, preventative, regenerative medicine and bioidentical hormone therapy. I have had a life-long fascination with diet, fitness and nutrition, and have learned how to biohack my genetic capacity. I realized that we, as humans, have the ultimate power over our bodies and our health. Wanting to learn even more about human biology, nutrition, health and disease, I went back to school to study for a BSN in nursing. I just recently completed my MSN (at age 60). I’ve written six books on diet and health that have sold thousands–and even hundreds of thousands of copies all over the world through “The Nutrition Watchdog” publishing. I am an expert on diet and health and want to share that knowledge with you. I can be reached at or 314-369-6400 or on FB Instant Messenger.


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