How to use 23andMe to see if you have a MTHFR mutation

The MTHFR (sometimes referred to as the MotherF*** gene) provides instructions for making an enzyme called methylenetetrahydrofolate reductase (abbreviated MTHFR). This enzyme plays a crucial role in processing amino acids, the building blocks of proteins, and in converting the amino acid homocysteine into another amino acid, methionine. The MTHFR enzyme used to convert folic acid (vitamin B9) into folate’s active form, methyl-folate (5MTHF).

The MTHFR gene has several variations, the most common being the C677T and A1298C mutations.

If you have had 23andMe sequence your genome (something I urge everyone to get), you can quickly see if you have one or more of these mutations.

The two most common MTHFR-specific SNPs (Single Nucleotide Polymorphism), a variation in a single nucleotide (a building block of DNA) you want to search for are:

1. For the C677T mutation: search for rs1801133 (on 23andMe: G/G is normal, A/G is heterozygous mutation, and A/A is homozygous mutation)

2. For the A1298C mutation: search for rs1801131 (on 23andMe: T/T is normal, T/G is heterozygous mutation, and G/G is homozygous mutation)

I made this video to show how to find these SNP’s:

I have a homozygous mutation for C677T and am normal for A1298C.

Why Is This Mutation Bad?

Before I go any further, it should be noted that these mutations are relatively common (about 40% of the world’s population) and that there is some disagreement on what the exact downstream consequences of this mutation may actually be.

In a nutshell, having this mutation can predispose you to certain health conditions and diseases, including:

• Depression

• Dementia

• Cardiovascular diseases include coronary heart disease, blood clots, stroke, and heart attack.

What to Do If You Have This Mutation

1. Avoid Grains/Gluten. Most grains in the US contain folic acid, a synthetic form of folate (believe it or not, the US began requiring the fortification of cereal grain products with folic acid in 1998). Folic acid needs to be converted to its active form, methylfolate, for use by the body. However, individuals with reduced MTHFR enzyme activity may have difficulty efficiently converting folic acid to its active form, leading to a potential buildup of unmetabolized folic acid.

   This buildup may interfere with the body's natural folate metabolism and methylation processes, potentially exacerbating symptoms associated with MTHFR gene variations, such as elevated homocysteine levels, inflammation, and impaired detoxification.
   
   One of the biggest game-changers for me in terms of health was quitting gluten. I noticed an immediate cessation of soreness in my joints and muscles. I actually had severe tendon pain in both elbows for years and had unsuccessfully tried various treatments with no success. After four days of eliminating gluten, the pain literally disappeared, and it has not returned (it’s been over two years now). Reading the Wheat Belly book by Dr. William Davis prompted me to eliminate gluten, and I highly recommend it.

   

   
   

2. Supplement With Methylfolate. Every member of my family has the MTHFR mutation, and we all use a Methylfolate supplement to help ensure that the body has an adequate supply of this essential nutrient for DNA synthesis, repair, and methylation processes, which are crucial for various bodily functions. Look for supplements that contain the bioavailable and active form of folate (L-5-MTHF). There are a lot of options - we use Jarrow Formulas Methyfolate 400mcg.
   

As always, consult with your physician before making any changes.