This Genetic Defect is Found in Half the Population

By: Cat Ebeling
Co-author of the best-sellers:  The Fat Burning KitchenThe Top 101 Foods that Fight Aging & The Diabetes Fix

Thirty to seventy percent of the population carries a potentially serious gene mutation called the MTHFR genetic mutation. I know what you are thinking…MTHFR does not stand for that, even though it looks like it! MTHFR is a shortened version of the words, methylenetetrahydrofolate reductase. Try pronouncing that–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.

Why is methylation important in our bodies? Normal MTHFR function helps to facilitate a process called ‘methylation’ which is a process in the body that comes from metabolizing certain nutrients, namely B-vitamins. This process converts two important B-vitamins, folate and B-12 into active forms that the body can then utilize. Methylation is a process that is extremely important in cell replication, healthy DNA, and preventing disease processes, like cancer.

What happens if I have the MTHFR gene defect? When the enzyme MTHFR is defective, methylation for folic acid and B-12 do not occur properly. That means these vital nutrients are not utilized. When folate is not converted into its usable form, (known as 5-MTHF) these nutrients cannot break down homocysteine.

Homocysteine may be a word that sounds familiar to you. Homocysteine is an amino acid in the body that is known to cause inflammation, particularly in the heart and blood vessels. High levels of 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, 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.

MTHFR mutations can affect several health parameters, including cholesterol levels, moods, mental illness, digestion, endocrine functions and more. MTHFR mutations can also cause changes in neurotransmitter levels in the brain, and hormone levels. Methylation helps produce neurotransmitters and hormones, including the ‘happy’ brain chemical, serotonin. Deficiencies in these can cause mental and mood problems like depression, anxiety, insomnia, ADHD, and sex drive.

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 Mutation Associated Health Conditions

Researchers are still looking into definite links to the diseases and health conditions related to the MTHFR gene blankdefect, but there is good reason to consider the following health problems may be connected to either one of the primary forms of genetic MTHFR mutation:

  • Autism
  • Autoimmune disease
  • ADHD and other developmental learning issues
  • Alzheimer’s
  • Birth defects, especially spina bifida
  • Down’s syndrome
  • Depression/anxiety, schizophrenia, biopolar disorder
  • Autoimmune thyroid or other (hyper/hpyo-thyroid problems
  • High homocysteine levels and heart disease
  • Hormonal imbalances, PMS, postpartum depression
  • Pulmonary embolisms or tendency to get blood clots
  • Diabetes
  • Fibromyalgia and chronic fatigue syndrome
  • Digestive issues, food allergies, IBS, Crohn’s disease

As you can see, there are quite a few diseases associated with this genetic defect. Many of these depend on the actual variant of the MTHFR genetic mutation that you may be carrying. The severity depends on whether you have inherited this defect from one parent, or both parents.

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.

  • MTHFR C677T mutations usually involve cardiovascular issues, elevated homocysteine levels, migraines, and neural tube defects.
  • MTHFR A1298C is connected to fibromyalgia, IBS, celiac disease, chronic fatigue, and mental disorders such as schizophrenia, depression, bipolar, and anxiety.

How do you know if you may have this genetic mutation? While bloodwork can easily pick up this mutation, it is not commonly done as a part of a routine examination, as of 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. People with the MTHFR defect cannot process or metabolize folate, and it can actually build up to toxic levels in the body. 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 multi-B vitamin with methylcobalamin and methylfolate is very 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 beansblank
  • 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 you can be aware. If you have any type of health condition that may be related to this common genetic mutation, it’s worth it to at least get on some high quality methylated B-vitamins, and be sure to include foods in your diet that are NATURALLY high in folate. Avoid any foods with added synthetic folate, like many breads and cereals (which you should be avoiding anyway!) Below are some other things that are good practice for anyone with a possible MTHFR genetic defect—and your overall health–regardless of whether you have a MTHFR mutation or not.

  • Avoid Foods with Added Folic Acid–Synthetic folate is virtually unusable by the body, and can become toxic, and worsen your symptoms. Always only take supplements that contain methylated folate or L-MTHF. Also include other B vitamins and be sure the B-12 is methyl-cobalamin, not cyanocobalamin.
  • Eat Your Greens—Dark leafy greens contain methylated forms of folate that those with a gene defect need. And, quite frankly EVERYONE needs more dark, green leafy vegetables!
  • Gut Health—Pay attention to your gut health. Eating healthy helps to encourage the growth of healthy bacteria, adding fermented foods and probiotics to your diet goes a long way towards helping your body process and utilize nutrients. Avoid antibacterial soaps, chlorinated water (it’s made to kill bacteria), processed foods, processed grains, and of course, avoid sugar.
  • Avoid Chemicals and Toxins—People with the MTHFR defect may have trouble with chemicals in the environment, including plastics, chemicals in food, personal products like soap and deodorant, artificially scented products, perfumes, and exhaust/smoke.
  • Check Your Medications—Birth control pills, antibiotics, antidepressants, cholesterol-lowering drugs, anticonvulsants, certain blood pressure medications, and acid reflux meds will deplete your B-vitamins and other vitamins and minerals. Talk to your physician about getting the necessary vitamins or changing meds.

MTHFR mutations are genetic, so we inherit these genes and their defects from parents. Even if you have the defect, you may not have any of the related health issues. However, if you do have a significant family history of any of the above health problems, it may be worth asking your doctor about the MTHFR test. Following the above recommendations are valuable and helpful for anyone who may suspect they carry the MTHFR defect; however, these health recommendations are wise for anyone—defective gene or not.

Here’s to your health!

Dr. Josh Axe, MTHFR Mutations: Symptoms, Diagnoses, and Natural Remedies. Retrieved from
Wellness Mamma, (2018). What is the MTHFR Gene Mutation? Retrieved from

About The Watchdog

Mike Geary has been a Certified Nutrition Specialist and Certified Personal Trainer for over 15 years now. He has been studying nutrition and exercise for almost 25 years, ever since being a young teenager. Mike is originally from Pennsylvania, but has fallen in love with mountain life and now resides in the picturesque mountains of Utah. Mike is an avid adventurist and when he’s not spending his time skiing, mountain biking, hiking, or paddleboarding on the lake, he has enjoyed skydiving, whitewater rafting, piloting an Italian fighter plane (seriously), scuba diving, heli-skiing, and traveling all around the world, enjoying learning about different cultures. At the age of 40, Mike now feels healthier, stronger, and more energetic than when he was 20... All because of a healthy lifestyle and great nutrition!

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