Get to know the MTHFR gene

What Is the MTHFR gene?

Methylene TetraHydroFolate Reductase (MTHFR) is the key enzyme that converts folate and folic acid into a form that the body can use, called L-methylfolate. This is the only form of folate that can cross the blood-brain barrier.1 Variations in the MTHFR gene, can be a predictor of underlying many health conditions such as cardiovascular disease, mental health, and even pregnancy complications.2

What is the difference between folate and folic acid?

The difference between folate and folic acid is that folate is found naturally in food and folic acid is man-made and is found in supplements.3 Both are in a form that the body cannot use without the conversion. 

How can the MTHFR test be clinically used in a patient?

In one case study of a 32 year old female, we see the genetic variation in her MTHFR enzyme that decreased the activity of that enzyme, and is the underlying cause of her anxiety.4

How is reduced MTHFR activity being treated?

Some of the possible options are finding the right dose of L-methylfolate, Vitamin B12 or SAMe which can compensate for the deficiencies. In the case of the 32 year old mentioned above, she was supplemented with all three, which greatly improved her anxiety.

Is low activity of MTHFR related to pregnancy complications?

MTHFR also help breaks down homocysteine, so it does not accumulate in the body. Homocysteine is an amino acid naturally found in the body in which the concentration falls during naturally pregnancy. High levels of homocysteine can cause inflammation leading to complications in pregnancy such as problems with neural tube defects.6

What are some of the variations in MTHFR gene?

Having 2 copies of the A1298C (C/C) may be associated with significant health conditions (decreased activity by about 30%) especially if combined with C677T genotype T/T. Having two copies of C677T (T/T) can put a patient at increased risk for many health conditions such as cardiovascular, mental health, and pregnancy complications.

References:

  1. https://ajp.psychiatryonline.org/doi/full/10.1176/appi.ajp.2012.11071114
  2. https://medlineplus.gov/genetics/gene/mthfr/
  3. www.cdc.gov/ncbddd/folicacid/faqs/faqs-general-info.html
  4. www.ncbi.nlm.nih.gov/pmc/articles/PMC4898281/
  5. https://ajp.psychiatryonline.org/doi/10.1176/appi.ajp.2012.11071114
  6. https://pubmed.ncbi.nlm.nih.gov/12787538/
  7. www.pnas.org/content/100/25/15089