What is MTHFR

What is MTHFR

Have you ever considered being tested for a genetic defect called MTHFR?

If you have a family history of heart disease or stroke, migraines, trouble getting pregnant or have a child with Autism you might want to consider reading on to learn more. These are just a few of the conditions linked to MTHFR mutation. Surprisingly, 60% of our population has this mutation and most do not even know what it is. Everyone I had mentioned it to that is not in the holistic world had no idea what MTHFR is which is what has sparked my inspiration for writing this article.

I recently came up positive myself for MTHFR A1298C. We will talk more about the two common markers in a bit. This changes everything when it comes to choices and is important to have the knowledge when choosing foods and supplementation.

So, what is MTHFR

The MTHFR gene (methylenetetrahydrofolate reductase) is an enzyme that plays an important 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). 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. [1]

Although, there are over fifty known MTHFR variants, two are primary ones are called C677T and A1298.

Some of the key things methylation process is responsible for are:

Cellular Repair – DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome (genetic material of an organism).

Detoxification and Neurotransmitter Production – The interconversion of amino acids.

Healthy Immune System Function – Formation and maturation of red blood cells, white blood cells and platelet production.

What’s the Difference Between the Two Most Common Types?

The 677T Variant is associated with heart disease and stroke whereas the 1298C is associated with a variety of chronic illness. Either one however can cause general health problems so one is not safer than the other to have in other words.

Homozygous vs Heterozygous

An organism can be homozygous dominant, if it carries two copies of the same dominant allele (allele – one of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome.), or homozygous recessive, if it carries two copies of the same recessive allele. Heterozygous means that an organism has two different alleles of a gene.

If you are homozygous (2 abnormal copies) your enzyme efficiency drops to 10% – 20% of normal which can be problematic. A more serious combination is 677T/1298C which has both genetic anomalies.

As mentioned above, there are many chronic conditions linked to MTHFR. Here are a few:



Autoimmune Disorders

Breast cancer

Chronic Fatigue

Down’s Syndrome


Heart Disease

IBS (irritable bowel syndrome)

Infertility in both men and women

Mental disorders such as bipolar and schizophrenia


Multiple Sclerosis (MS)

Sensitivity to chemicals


The Great Detoxifier

Glutathione is the body’s main antioxidant and detoxifier. What happens with MTHFR mutation is it can make you susceptible to disease by lowering your body’s ability to make glutathione. Most people with MTHFR have low glutathione levels. With low glutathione levels, you are more sensitive to toxins and chemicals including heavy metals. The good news is you can supplement glutathione in the correct methyl form and change up your diet. More to come on this. With oxidative stress, we are more likely to have premature aging as well. Another reason to be aware of MTHFR and maintain a healthy high folate diet along with supporting supplementation.


If you have any of the symptoms above or have a family history with MTHFR mutations I highly recommend testing for both C677T and A1298. Testing can be done through a practitioner. I use True Health Diagnostics through the office or you can go to 23andme and order the test. It’s inexpensive and well worth it. Also, testing your levels of glutathione would be beneficial so your practitioner knows where your levels are before recommending supplementation.

Supplementation for MTHFR

If you are taking a B vitamin, make sure it’s methyl-B12, methyl-folate. Taking synthetic forms (folic acid) can be more harmful than good because the body cannot do the conversionIt’s essential to make sure that your method delivers the antioxidant efficiently to your cells. One of the B vitamins I recommend from Pure Genomics is their B Complex available on Fullscript

Glutathione is also important but hard to absorb so a liposome form is recommended or get one with a precursor called NAC (N-acetyl-cysteine). Glutathione is important for detoxification as mentioned.  Here are a few to consider – Liposomal Glutathione by Pure Encapsulations as a liposome form or S Acetyle Glutathione by Designs for Health with NAC also available on Fullscript.

With any supplement, you can have adverse effects so make sure you work with a knowledgeable practitioner.

Diet and Lifestyle

Folic Acid vs. Folate

While folic acid and folate may be marketed interchangeably, their metabolic effects can be quite different, especially for those with the MTHFR mutation. Folate is the bioavailable, natural form of vitamin B9 found in a variety of plant and animal foods. Folic acid, on the other hand while readily utilized by the body is synthetic. Folate is found in supplements and fortified foods such as cereals and might I add nutritional yeast. The body is more adept at using folate and regulates healthy levels by discarding excess folate in urine. With MTHFR folic acid can be problematic so make sure you purge the folic acid rich foods and supplements. For those who love the flavor of nutritional yeast and use it in vegan recipes there are a few companies who make unfortified versions you can get off amazon.

Daily lifestyle activities such as dry brushing (lymphatic circulation) Epsom salt baths, exercise, sauna’s (infrared sauna is amazing) and of course a healthy diet rich in natural forms of folate such as

  • Beans and lentils
  • Leafy green vegetables including raw spinach
  • Asparagus
  • Romaine Lettuce
  • Broccoli
  • Avocado
  • Bright-colored fruits, such as papaya and orange

Here are just a few examples of some folate rich foods. As you can see spinach packs a powerful punch of folate as well as papaya and lentils coming in the highest. [2]

Source SpinachAsparagusPapayaOrangeLentilsPinto BeansSunflower Seeds  Serving Size 1 Cup1 Cup1 papaya1 orange1 Cup1 Cup¼ Cup  Folate 263 mcg262 mcg115 mcg40 mcg358 mcg294 mcg82 mcg DV % 65%64%29%10%90%74%21%

Did you know your liver needs glutathione to produce bile in addition to the detoxification process? Look at addressing health issues such as leaky gut, IBS and Inflammation as these can affect absorption and neurotransmitter levels as well as hormones with MTHFR A1298C mutations.

MTHFR mutations are tied to higher mental disorders such as anxiety, depression, bipolar and schizophrenia as well as chronic fatigue and fibromyalgia. It’s important to find ways to manage the stressors in addition to healing the gut as symptoms can be heightened with MTHFR.

Protect the heart with an anti-inflammatory diet rich in omegas, fiber and plants. Omega 3 and COQ10 supplementation is helpful. Thorne has a good Omega 3 supplement with COQ10 in one capsule. A good multi is beneficial as long as you get one with B12 (methyl cobalamin) and Folate (methyl tetrahydrofolate) forms.

Drug Interactions to consider

You should not use any supplements without first talking to your health care provider. For example, folate should not be taken at the same time as the antibiotic tetracycline because it interferes with the absorption and effectiveness of this medication. Folate is necessary if taking medications for birth control, cholesterol or seizures for example as they may lower folic acid levels in the body. Dosage and timing is important to know.

Here are some medications to keep in mind:

  • Antacids, H2 blockers, proton pump inhibitors
  • Bile acid sequestrants
  • Carbamazepine
  • Nonsteroidal anti-inflammatory drugs (NSAIDs)
  • Sulfasalazine
  • Triamterene

When taken for long periods of time, these medications, as well as other anti-inflammatory and anti-seizure medicines, can increase the body’s need for folic acid.

Also consider drugs used for cancer, rheumatoid arthritis and psoriasis as those also reduce the folic acid in the body. Supplementing folic acid can help reduce symptoms of these disorders however with cancer, folic acid may interfere with methotrexates effects on treatment. Talk with your practitioner if you are taking any medications. [3]

Knowing your DNA make up is important as is knowing your numbers (blood pressure, cholesterol, etc.) so you can keep a handle on your health and do your best to control stress. Getting tested for the MTHFR mutation is worth knowing whether it comes up or not. It can make all the difference in aging and detoxing and give you a peace of mind.



© Copyright 2017

This is intended for informational and educational purposes only, and is not intended or suited to be a replacement or substitute for professional medical treatment or for professional medical advice relative to a specific medical question or condition. Results vary from person to person and cannot be guaranteed.