What is the MTHFR gene and how can it impact your health? Explanations, definitions, and treatment options

  • The MTHFR gene provides instructions for your body to make the MTHFR enzyme, which helps your body process/metabolize folate.
  • Your body needs folate to make DNA and modify proteins.

Role of enzymes:

Enzymes are proteins and encoded by genes. Enzymes are important elements that catalyze many reactions in a cell including replication, transcription and translation.

Most of the biochemical reactions in the body operate as cycles that are dependent on one or more enzymes. E.g. Chemical A gets converted to Chemical BChemical B in turn gets converted to Chemical C. Each of those steps has an enzyme involved that aids in the actual conversion of the first chemical into the second and so on.

What is a genotype?

  • A genotype is the combination of the set of genes responsible for a particular trait.
  • Each person has 2 copies of the MTHFR gene: one from the mother and one from the father.

What is a gene variant?

  • As is true for any gene, the DNA code of the MTHFR gene can vary. When we identify a part of the sequence that varies, we call it a “variant.” Genetic research aims to identify specific variants that cause harm or benefit to health.
  • There are two very common MTHFR gene variants, called C677T and A1298C, that have been an active area of study. These variants are common. In America, about 25% of people who are Hispanic, and 10-15% of people who are Caucasian have two copies of C677T.

What is MTHFR C677T?

  • MTHFR C677T is a gene variant. A gene variant is a change in DNA sequence that is different from the expected DNA sequence.
  • MTHFR C677T is the most common gene variant in the MTHFR gene. This means that at the 677 position in the MTHFR gene, “C” is the expected DNA base and “T” is the gene variant.

What is MTHFR A1298C?

  • this is another common gene variant. It occurs at the 1298 position in the MTHFR gene. this means at the 1298 position in the MTHFR gene, “A” is expected and “C” is the variant.

Risks involved:

  • Studies have found that women with two C677T gene variants have an increased risk for having a child with a neural tube defect.
  • Studies have also found that men and women with two C677T gene variants and elevated homocysteine levels may be at a mild increased risk for blood clots (venous thromboembolism).


People with homocystinuria due to MTHFR deficiency tend to have two rare variants or sometimes a rare variant and a common variant. Very rarely people inherit a combination of three or four common variants from their parents (for example two C677T variants and two A1298C variants) and may also develop very high levels of homocystine in their body. 

Possible treatment options for MTHFR deficiency involves taking:

  • remove all folic acid from foods and do not take folic acid supplements. folic acid binds to folic receptors.
  • get rid of all dairy products as they disrupt the folic receptors through antibodies. they prevent folate from binding

If MTHFR deficiency is diagnosed early and betaine treatment is started right away, affected infants have a much better developmental outcome. Treatments started later do not reverse symptoms but can cause favorable improvements in symptoms.

There are seven specific nutrients that can help the methylation cycle achieve optimal performance, even if an individual has the genetic mutation that slows down the methylation cycle.

  • 5-MTHF (active folate) / folinic acid (not folic acid)
  • Methylcobalamin (active vitamin B12)
  • Pyridoxal 5’-Phosphate (active vitamin B6)
  • Riboflavin 5’-Phosphate (active vitamin B2)
  • Magnesium
  • Betaine (also known as trimethylglycine)
  • Vitamin D

Proper methylation influences so many systems in our bodies that it often gets overlooked, which can severely impact how well your body functions. Ask your health-care practitioner for advice if you have any concerns about your CH3 cycle.

What is Homocysteine?

Homocysteine is an amino acid that is a part of methylation cycles yet at elevated levels it can become toxic to cells, damage blood vessels, promote oxidation, elicit an autoimmune response, increase risk of atherosclerosis, and contribute to dementia, depression, and neural tube defects.

Though homocysteine is generated from methionine, it must be continuously recycled back to methionine (or on to cystathionine) in order to avoid accumulation.

Elevated serum homocysteine (Hcy) is a widely accepted marker for methionine/homocysteine imbalance, which is a genetically controlled process. Elevated homocysteine levels can lead to accelerated aging, cardiovascular disease and neurodegenerative disorders among others.

What is Methylation:

Transfer of methyl groups from one chemical to another is called methylation. Essentially any chemical compound that has a methyl group as part of its chemical structure is capable of donating it to another chemical that needs it. The chemical that receives the methyl group is “methylated“. This process of moving methyl groups around is necessary for the functioning of several biochemical reactions such as DNA and RNA synthesis, creatinine generation, immune responses involved in silencing viruses etc.

What is the Methylation cycle?

This is the pathway at the far right in the diagrams, it is also known as the SAM or Methionine cycle. It is so named because of the intermediates involved in the cycle and also because this is the cycle that is responsible for the process of methylation that was described above (adding or removing methyl groups to various chemicals/metabolites and/or reactions). The intermediates or chemicals involved in this cycle are methionineS-adenosylmethionine (SAM or SAMe), S-adenosylhomocysteine (SAH) and homocysteine. It involves the regeneration of methionine from homocysteine. This conversion of homocysteine to methionine occurs with the help of Vitamin B12 (specifically the methyl version of Vitamin b12, methylcobalamin) and 5-methyltetrahydrofolate (folapro), which is an intermediate in the folate cycle. Look at this cycle as starting with methionine, methionine then being converted into the various intermediates such as SAMe, SAH, homocysteine and then ultimately being re-converted into methionine.


Test results may vary depending on your age, gender, health history, the method used for the test, and other things. Your test results may not mean you have a problem. Ask your healthcare provider what your test results mean for you. 

The information on is NOT intended to replace a one-on-one relationship with a qualified health care professional and is not intended as medical advice.

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

This site uses Akismet to reduce spam. Learn how your comment data is processed.

%d bloggers like this: