If you are reading this post chances are you either have an MTHFR gene mutation or are considering being screened for it.  So let's get some of the basics out of the way first. MTHFR is an acronym for methyltetrahydrafolate reductase. This enzyme is responsible for creating active folate or methylfolate in our bodies from things like folic acid.  This process turns out to be incredibly critical for many aspects of how our bodies function.  

You can read more about the health issues MTHFR defects causes here.

For some their genetics are such that the enzyme they make does not work properly leaving them with little methylfolate.  While this enzyme (and the methylfolate it makes) is important many people overlook the potential problems that can occur from too much focus on this single genetic defect.  As a result many will have worsened health problems from treating (or over treating) this issue. We will discuss 3 of the main areas for problems here. 

1. Anxiety From MTHFR Gene Treatment

When you have an MTHFR gene mutation it may be the source of some of your anxiety. However treating it can also cause anxiety for several reasons.  The most common occurs when treatment begins without taking into consideration the full effects of this treatment. The MTHFR enzyme is one of thousands of enzymes in your body. So trying to correct for a deficiency here can cause more problems when there are also issues with other enzymes down stream.

What do I mean by down stream? Well, the MTHFR enzymes is a key enzyme needed to make neurotransmitters. Therefore treating the defect will typically result in more neurotransmitter production. However, if you have a genetic defect in the enzymes that breakdown neurotransmitters you will end up with an excess of neurotransmitters creating an anxious and uncomfortable experience.

Sometimes this reaction is severe even edging on the boarder of psychosis and other times it creates a more subtle irritability and anger. This phenomenon underscores the importance of getting physician guidance for this treatment and proper screening of all genetic defects. 

2. Joint and Body Aches From MTHFR Gene Treatment

 Joint and body aches can occur from taking methylfolate and other methyl-donors. Similar to the support of neurotransmitter production, methylfolate also supports the production of our cell membranes.  Cell membranes are made up of fatty acids like phosphitidycholine. Production of these are needed on an ongoing basis because there is always damage and repair occurring in our bodies.

 For instance, each time we contract a muscle there are small micro-tears in the muscle that do the contraction. The cell membrane in these muscle then need to be repaired. Methylfolate supports this process, that's the good part. However, if you take too much the whole process can be turned off by the body in self regulating effect.

In other words, when the body see's it has enough of a certain compound it will down regulate the process that nutrient (in this case methylfolate) is supporting.  When that occurs the person may experience aches in their joints and muscles from down regulation of the cell membranes support cycle.  Once the levels decrease the process will restart again. 

3. Headaches From Treating MTHFR Gene Mutation

Headaches are fairly common when someone is being treated for MTHFR. Not everyone will experience this but in most cases when this occurs it is because they are taking too much folate or other b vitamins. The reason it happens is because the body has built in negative feedback loops.

Just like with the cell membranes, when it senses there is enough of certain substances, it shuts off production. This then shifts the flow of molecules in different pathways/directions. You could think of this similar to building a dam and using the water for irrigation. one switch will shift the water in a different direction. In this case the switch pushes molecules into a detoxification pathway. So the headaches come from the body detoxing.  Typically it is sulfur detoxification but could also be hormones and other molecules. 

Check out this case study on detoxification.

Safely Treating MTHFR Gene mutation

With the problems noted above you can see that treating MTHFR gene mutations and taking methylfolate is not as straightforward as it may seem. While it is generally safe to take, the idea with supplementation of any kind is to help the body come into balance. When the body is not in balance it will try to correct for this. Over-treating one side of a biochemical pathway can also cause collateral deficiencies and issues in the body.

The bottom line is that there are many reasons why someone can have a problem taking methyl folate or treating MTHFR gene mutations. Many, many times the problems are not from the MTHFR gene mutation but something different entirely. 

If you are struggling with chronic health issues, MTHFR many be a big part of the picture but there may be bigger players too.  Its a good idea to have an  MTHFR doctor and guide and oversee this kind of treatment.