MTHFR (Methylene tetrahydrofolate reductase) was controversial in our early days on this journey but I feel like I need to address where we are today.  People ask me all the time what I think about MTHFR. Do I think it’s important?  Short answer, yes. When my son was very young MTFHR was new to the autism picture and not a lot of was known about it. Many people thought “wow we found the autism gene”. That turned out to be incorrect because no one has proven autism is a genetic thing despite claims to that effect. It’s far more complex than that. If it were this gene, all us mommies, daddies and grandparents with MTHR gene’s would also have autism. We don’t.

So what is the issue with this gene?

Let’s start off first by clarifying that it is not a mutation. It’s a variation in a gene among the population. Some people have a blue eye gene, others have a brown or green. These are variations in a gene. A significant portion of the population carries MTHFR variants. It’s not a new gene or a new variant. The difference is testing for it was not available until recently. Even then, that testing is not checking for all the possible variants on an MTFR gene.  Most people call these “mutation” for ease of explaining it but technically they are just variants, variations if you will. A mutation in a gene is actually a defect, this is not a defect. This is like ice cream, where it comes in vanilla, chocolate and strawberry. Some of us have strawberry, some vanilla, etc.

Since the gene variation is not new and only lately a problem let’s look at why. Our environment and our food has changed significantly from past generations.  The key change that stands out is in 1998 the government instituted fortification of all processed flour with folic acid (pteroylglutamic acid). It really was with the best of intentions to prevent neural tube defects in infants.  It did help. The problem though was that synthetic folic acid is used, not the folate found naturally in things like dark leafy greens. So where it went wrong was not factoring whether or not the entire population can convert folic acid. Today we know not everyone can convert it.

The previous claimed myths of MTHFR’s effects on health are dissipating today. The National Institute of Health and Rare sites both list MTFHR genetic variants to be associated with health issues. So even the government agencies recognize it’s a risk. Unfortunately institutions like the American Heart Association still claim it’s not necessary to test “at risk” patients with heart disease for MTHFR. I find that rather interesting and certainly not in the best interests of heart patients.  MTHFR is associated with a higher risk of heart disease and early heart attacks.  It makes no sense why they would not want to screen for the risk if you are truly trying to reduce heart disease.

I personally don’t believe the gene itself is the problem. I think the problem is that we chemically alter our food and then we are exposed to lots of toxins and for the MTHFR population this experiment is not going well.  Keep in mind MTHFR is the gene that makes the enzymes responsible for converting folate into methylfolate. If you have a variant like C667T or A1298C, it means that your ability to convert folic acid is impaired.  It’s an easy fix. Avoid folic acid and take real folinic or methylfolate. (read more here: MTHFR Gene)

A further issues we have is that most practitioners are still using serum B12 to look for deficiency. This test is very limited in it’s use for finding B12 deficiency. The test will also pick up the folic acid in your blood and elevate the test results. People with MTHFR are notorious for having high serum B12 but all the signs of B12 deficiency.  It’s all that folic acid they can’t use pooling around in the blood. There are better tests but you have to know what they are and your doctor has to be willing to run them. A lot of B12 deficiency is going to be missed otherwise.

In this particular post I am not going to address MTHFR’s role in methylation but I do think that role is very important. It is how our body handles chemicals, metals and hormones.  I do think impaired methylation and B deficiencies are a problem that should be addressed.

The irony of the MTHFR issues is that it’s fairly easy to treat to prevent future risks. It’s all about taking forms of B vitamins your body doesn’t have to convert.