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Contrary to how it looks, “MTHFR” is not an abbreviation for a curse word, but a shortened form of Methylenetetrahydrofolate Reductase


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 vitamin folate (also called vitamin B9). Natural sources of folates are uncooked green leafy vegetables. Synthetic forms of folates also known as folic acid need to be avoided.

Specifically, this enzyme converts a molecule called 5, 10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate. 5- Methyl tetrahydrofolate is the active form of folate our body can use.

Ensuring adequate synthesis of active folates is also important to ensure our body is producing enough glutathione (our major antioxidant). Glutathione helps in many detoxification processes.  It helps getting rid of toxins we are exposed to from the food we eat, the water we drink, and the air we breathe.

Research estimates that as much as half of the population may have an MTHFR gene mutation (most frequently encountered in Hispanic and Italian ethnicities).

MTHFR Gene Mutation: What is the problem?

MTHFR mutations (also called SNPs standing for Single Nucleotide Polymorphisms pronounced “SNiPs”) reduce the activity of the enzyme up to 70% in compound homozygous for C677 and A1298 MTHFR mutations. People with MTHFR mutations may present with elevated homocysteine (an inflammatory marker) levels, which have been associated with inflammation and heart disease, birth defects, difficult pregnancies, stroke, Alzheimer’s disease, Parkinson’s disease, and potentially an impaired ability to detoxify.

Nutrient deficiencies in Folate, B6, and B12 have been also associated with elevated homocysteine levels.

Individuals with the MTHFR gene have a difficult time processing folic acid (a cheap and synthetic form of folate) that is present in most OTC supplements, added to processed foods and to fortified food. Some researchers claim that this type of folic acid (synthetic) may even cause a build-up in the body which is toxic. Studies have been done that showed folic acid supplements increased cancer risk… one more reason to avoid processed foods and OTC multivitamins!

Lingering fatigue, fogginess, anxiety, sleep issues, and the inability to deal with alcohol and other toxins effectively can be a result of an underlying gene mutation like the MTHFR mutation.

Activated folate (named 5MTHF) synthesized by the MTHFR enzyme goes on to give its methyl group (CH3 chemical formula) along with B12 to create Methionine, an amino acid found in animal products. Methionine then will be converted to SAMe (S-Adenosyl-Methionine) the main methyl donor in our body. This process is called “methylation.” It is required for the creation of every cell in your body, so if it is not activated properly, this is a significant issue.  

5-MTHF, along with several other nutrients, is also used to create and process neurotransmitters (messengers in the nervous system like serotonin, epinephrine, norepinephrine, and dopamine); create immune cells and process hormones (such as estrogen); as well as to produce energy and detoxify chemicals.

Stress, in all its forms, inhibits this “methylation” – the transfer of methyl from 5MTHF to other substances. So, when you are under stress, it is especially important to provide the nutrients necessary for these processes.

To clarify in more detail, the liver is a major processing system, involving countless enzyme pathways, including methylation, which turn one nutrient into another and toxins into non-toxins, preparing them all to be used and/or expelled by the body in our stools or urine. When you drink alcohol, it is your liver’s job to process it using methylation, but if your nutrients are depleted (for many different reasons including a poor diet) or you are stressed, your liver will not be able to complete the process effectively, leading to symptoms associated with a hangover as an example.

Identifying a potential MTHFR defect is especially important for women of childbearing age, as it can increase the risk of many problems in an unborn child. Spina Bifida, a neural tube defect (lack of closure of the neural tube during the maturation of the fetus) is a condition directly linked to the lack of folate during the pregnancy.

MTHFR mutations and how to test for them?

There are many different possibilities when it comes to MTHFR gene mutations and science is still working to understand them all. There are several common mutations that can occur.

The reason for all the types of mutations is variations in the specific genes passed on from each parent. In other words, if both parents pass on a healthy gene, a person will not have a mutation at all. If one parent passes on a healthy gene but the other passes on a mutated gene, several variations can occur. If both parents pass on a mutated form, there are many more scenarios that can occur.

The two most problematic mutations that can occur are C677T and A1298C, which denote the placement of the mutation on the gene. The most common forms of MTHFR mutation involve various combinations of these genes being passed on from each parent:

  • Homozygous: the same gene passed on from both parents- can occur if both pass on the C677 mutation, or the A1298 mutation.
  • Heterozygous: one parent passed on the C677 mutation or the A1298 mutation, but the other parent passed on a normal gene.
  • Compound Heterozygous: one parent passed on the C677 mutation and the other passed on the C1298 mutation.
  • You can routinely test for these 2 genes with a blood test.

Here is an even shorter explanation of What MTHFR is

There are different options when it comes to testing for MTHFR mutations.

Your doctor can order a blood test to test for the most common variants of the MTHFR gene as described above. This is simple, cheap but may not give us enough information to help to optimize your health.

Another option is to order a DNA saliva kit. My current preferences go to Ancestry DNA but 23&Me is also a valid option. This test will give us much more information regarding your genome and the presence of other genetic mutations which may also affect your health risks and it is reasonably inexpensive. It requires the use of specific software to interpret the data obtained from the test. Dr. Jean-Marc Sobczyk can guide you through the entire process.

There are many other companies testing your DNA, another interesting company worth mentioning is Nutrition Genome. It is a more expensive but also a more comprehensive DNA test (more genetic variations are included in this report). You can ask Dr. Sobczyk about the Nutrition Genome DNA test to see if this test is appropriate for you. 

If you are new to MTHFR and feel overwhelmed you can schedule a visit with Dr. Jean-Marc Sobczyk, MD, ND, and MTHFR expert call today 424-666-2420, or email Dr. Sobczyk at info@drsobczyk.com