The MTHFR gene provides instructions for your body to make the MTHFR protein, which helps you process (“methylation”) folate. We need folate to make DNA and modify proteins. The MTHFR gene helps us break down a substance called homocysteine. Homocysteine is a type of amino acid, a chemical your body uses to make proteins. Normally, folic acid and other B vitamins break down homocysteine and change it into other substances your body needs. There should then be very little homocysteine left in the bloodstream.

If you have an MTHFR mutation, your MTHFR gene may not work right. This may cause too much homocysteine to build up in the blood, leading to various health problems, including:

Simply having a mutation in the MTHFR gene doesn’t mean you will end up not being able to process (methylate) folate, and thus be at greater risk for these conditions. This is why I instead check how well one methylates by looking at estrogen methylation on the DUTCH test. If you have have an MTHFR mutation but you have normal methylation on this test, we know that your body is able to work around these mutations and still methylate properly. The analogy I like to use is one of a road detour sign you may encounter when driving. The simple presence of the detour (MTHFR mutation) may make the driving time slightly longer, but you will still get to your destination (methylation).

If we detect low methylation activity on the DUTCH test, there are multiple strategies to address this.