Methylation Mutation:MTHFR Gene

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 will take folic acid, Vitamin B9, and convert it into the active form, 5-methyltetrahydrofolic acid, aka 5MTHF. 5MTHF is required by the body to make homocysteine and convert homocysteine into methionine.

Why is it important to process homocysteine to methionine? Homocysteine is an amino acid used as a building block in our proteins and on a cellular level helps our body link proteins together. Methionine is one of our essential amino acids used to build proteins in our body. If we have the genetic variant on the MTHFR gene, then we will have high homocysteine levels. This leads to an increase risk of cardiovascular disease.

We are finding about half our population has some sort of genetic mutation with this MTHFR gene. For simplification this means they do not methylate or make active forms of vitamins for absorption and use by their body. Without methylating the vitamin B9 we have a increased risk of cardiovascular disease, but that is not all. This lack of nutrient absorption has been linked to trouble focusing, thromboembolic diseases, depression, anxiety, biplolar disorder, schizophrenia, chronic fatigue, miscarriages, neural tubal defects like spina bifida, migraines and some cancers. Simple supplementation of active folic acid, aka, 5MTHF or L-methylfolate will change patients lives. They will process food and their metabolic pathways will work properly, their body will have the necessary tools to build proteins and link them, they report mental clarity, stability, migraine relief, and so on and so forth.