MTHFR specifically is a gene for methylenetetrahydrofolate reductase – an enzyme that helps our bodies convert vitamin B9 (also known as folate) into a usable form called methylfolate. This process is called methylation.
Now, if you’re thinking, “Oh, no problem! There’s folate in my multi-vitamin,” it’s important to note that the “folate” in most foods and vitamins is folic acid, which researchers believe is harmful to those with MTHFR gene mutations.
When the MTHFR gene is functioning properly, it’s highly efficient at helping our bodies convert vitamin B9 (folate) into a usable form called methylfolate. When the gene is mutated, this capacity to convert vitamin B9 into methylfolate is reduced by 40-70%.
That’s HUGE, because converting folate into a useable form is essential for DNA synthesis and repair, neurotransmitter production, detoxification, and immune function.
Researchers are just beginning to study the connection between MTHFR mutations and different conditions, but so far it has found an association with quite a few. Here’s a short list of conditions that have been studied:
· Tongue and lip ties
· Heart disease (source)
· Alzheimer’s (source)
· Depression (source)
· Recurrent miscarriage (source)
· Asthma (source)
· Prostate cancer (source)
· Bladder cancer (source)
· Multiple Sclerosis-like symptoms (source)
There are over fifty types of MTHFR gene mutations . . . possibly more that have yet to be discovered. However, the two that are most commonly studied and tested for are C677T and A1298C.
· Heterozygous – having one copy of the C677T or A1298C mutation and one normal copy
Heterozygous for C677T have an estimated 40% loss of function
· Homozygous – having two copies of either the C677T or A1298C mutation
Homozygous have an estimated 70% loss of function
· In cases where an individual is compound heterozygous – having one C677T mutation and one A1298C mutation – there is an estimated 50% loss of function. (source)
Unfortunately, folic acid – which is a synthetic vitamin found in fortified foods and almost all vitamin supplements – is considered harmful for people with MTHFR mutations. Though it is easily absorbed by the body, people who have low levels of the MTHFR enzyme are not able to convert very much of it into usable form. So, what happens to the unconverted folic acid? It attaches itself to the same receptors in the body used to absorb folate, effectively blocking the body’s ability to absorb any usable folate that is floating around. (source 1, source 2)
Side note: Many lab tests do not distinguish between folic acid and folate when measuring blood levels. If folic acid intake is high, the results may show an individual has adequate amounts of folate when in fact what they actually have are high levels of unusable folic acid (but very little folate).
How to get tested for MTHFR
If you have symptoms that relate to MTHFR and your doctor orders the test for you, there is a possibility that it will be covered by insurance. However, if for whatever reason the insurance company decides it is not covered, your out-of-pocket costs can be very high – sometimes over $1000. Definitely check with your insurance company and the lab you are ordering through to determine what your max cost might be.