After the human genome was successfully mapped in the 1990s the follow through to unlocking the secrets of health has focused on looking at alterations in individuals at the level of specific genes. The language of genes is in the genetic code of our DNA, and if there is change in just one DNA pairing within a gene the function of it changes. These changes are called “Single Nucleotide Polymorphisms” or SNPs, and that single change is akin to a typo that changes the meaning of a sentence. [For example, “The quick brown fox” becomes “The quick brown box” which doesn’t make any sense.]
The MTHFR gene codes for an enzyme that functions in the metabolism of folate (vitamin B9), and is an essential part of the methylation pathway. Individuals who have a mutation within the MTHFR gene that leads to reduced activity of the enzyme appear to be susceptible to a variety of health concerns including increased levels of homocysteine. Homocysteine is a known risk factor in cardiovascular disease.
Poor methylation affects the liver’s ability to detoxify certain chemicals and compounds, as well as gene regulation, neurotransmitter production and metabolism, DNA synthesis, immune regulation, and more! Some of the most important biochemical pathways in the body are therefore affected by our innate ability to methylate various compounds.
MTHFR also influences the effects of the drug methotrexate in the body. Methotrexate works through the same pathways as folate and is used as a treatment for various cancers and autoimmune conditions. Unfortunately, it is also associated with a range of side effects. Due to the overlap in the pathways used by methotrexate and folate, the MTHFR gene influences the efficacy of this drug. Some people don’t respond to it, while others are subject to intense side effects. Testing for MTHFR mutations helps to take away the guesswork when prescribing methotrexate and allows for greater insight into who may be a good candidate for treatment with methotrexate, who is unlikely to experience benefit, and who may do better with a lowered dose of this medicine.
MTHFR testing is available through Sage Clinic using Spectracell laboratories. Testing provides useful insight into individualized treatment of patients with a range of conditions from cardiovascular concerns, autism, depression, digestive issues, insomnia, additions, chronic fatigue syndrome, and more.