Updated: Nov 27, 2020
"Methylation" or the MTHFr gene "mutation" is becoming more recognized in the past few years. Awareness of this common issue is now rolling through the holistic health and functional medicine communities almost as quickly as the "revelation" about Vitamin D did about 10 years ago. It is, for lack of a more sophisticated term, "the new thing".
Knowledge of subtle genetic variations is more than 20 years old, and basic understanding of MTHFr variants have been around for more than a decade. However, our understanding of the myriad health implications that may arise with MTHFr (and many related genes) is a rapidly evolving and cutting edge study. New information is coming out constantly, and often mandates new approaches to support.
What is MTHFr?
MTHFr is the acronym for a gene, that contains the blueprint of an enzyme called "Methyl-tetra-hydro-folate-reductase". That enzyme's job is to put a methyl group (carbon with 3 hydrogens) onto a folate molecule, thus activating it.
So, what's the big deal?
That methylated folate goes all over the body and affects several major things:
DNA replication - if there is not enough methyl folate, cells can't reproduce at full speed. This is particularly relevant to cells that have to reproduce quickly:
lining of the gut
bone marrow making red and white blood cells
Production and breakdown of neurotransmitters (mood chemicals in the brain)
Ability to clear toxins (chemicals, drugs, medications, etc) out of the body
For some people, taking special folate and B12 can facilitate major improvements in health. For others with these "mutations," taking the special folate and B12 causes them to feel worse (even though their body is low in the activated forms of these vitamins). We are now beginning to understand the complex web of the other genes that are related to the "methlation" process and why people need such different kinds of support.
Getting your Genome and MTHFr genes mapped
The best tool we have for predicting what specific support may be needed is having the genome mapped and using a third party service to generate a report based off the raw data. There are many companies offering these services, some with very big price tags.
23andMe is currently the most affordable approach to getting your genome mapped (around $100). It is a consumer service (no doctor’s orders required). The FDA has prohibited them from producing reports (you will see a warning message on their website), so your “raw data” has to be run through one of several third party programs. Your choices are:
http://www.mthfrsupport.com/reports-consults/order-reports/ (this is the one I use most often)
They are about the same price (around $10-$30 per panel). The Genetic Genie report is very short and may miss a lot, but it is quick and affordable. The MTHFRsupport report is much longer and more detailed and is my current favorite. You will have your raw data from 23andMe so if you ever want to run it through a more comprehensive reader, you can always do that in the future.