How's your MTHFR?

The MTHFR gene provides information for your body to make an enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme enables our bodies to use the vitamin folate properly so that our methylation cycle can run. Biochemically, methylation is the process of transferring a methyl group (one carbon with hydrogens attached to it) from one molecule to another. Methylation affects over 200 processes in the body, turning on and off specific genes, affecting antioxidant production - including the master antioxidant glutathione, cell repair, cell replication, brain chemistry, detoxification, and much more. Clinically, an issue with methylation can show up as anxiety, depression, chemical sensitivity, brain fog, sleep problems, hormone imbalances, fertility issues, heart disease, histamine intolerance  - to name a few. 

We all have two copies of every gene, one inherited from each parent. We all also have many small variations in the nucleotides (the smallest part that makes up our DNA) where one nucleotide gets switched out for another nucleotide. This may affect the functioning of that gene. These are called single nucleotide polymorphisms, or SNPs. The SNPs associated with the MTHFR gene do not automatically cause health issues, but they can, especially if both copies of the gene have a SNP, but also depend on the environment they are in - our diet and lifestyle. There are many known SNPs in the MTHFR gene, but two most researched ones that have the most known significance for health are known as A1298C and C7677T. These SNPS are super common - about 45% of the population has one SNP and 10% has 2 SNPS, which can affect the function of the MTHFR enzyme. But again, just because we have a SNP does not mean we have a medical problem due to that SNP. There is a saying in functional medicine - genetics loads the gun, but the environment pulls the trigger - and that truly applies here. 

Testing to see if you have the MTHFR SNP can be done by most providers or commonly available genetic testing companies. Many of my patients come to me with their genetic results and we need to determine if this SNP is actually a problem for them. I will often test people who have a history of depression, anxiety, infertility, signs of poor detoxification, and heart disease. If they have a SNP we think is affecting their methylation, I will give a methylated form of folate to bypass the genetic blip so that the methylation cycle can move forward. We also look into other reasons methylation may not be functionally optimal - including having required nutrients like vitamin B6, vitamin B12, magnesium, choline and betaine, and looking into medications and toxicity from the environment which can affect the cycle. For instance the toxin BPA, found in many plastics, is a major demethylator. You don’t always need to inherit a gene issue to have a methylation issue.

Methylation is an intricate process that can have many implications if not running smoothly. If you think you can possibly have an issue with methylation, talk to your provider about looking into MTHFR SNPs and other factors that could be affecting this very important cycle.