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What You Need to Know About the MTHFR Gene

Updated: Jun 26

You've probably heard that if you have mutations on the MTHFR gene then you need methyl folate, right?  This is partially true, however there is more to it than that.  There are two main MTHFR genes--MTHFR C677T and MTHFR A1298C. Even though both MTHFR C677T and MTHFR A1298C effect folate metabolism to a certain extent, they actually have very different functions.



Many people start taking methyl folate when they find out they have MTHFR mutations. The problem with that is they may not know which MTHFR mutation(s) they have and oftentimes the practitioner they are working with only tests one MTHFR gene, and not the other MTHFR gene--or the other genes that are important in determining if methyl folate is needed, and if so, how much. So many people over methylate and then end up getting other symptoms they didn't have before.   


MTHFR C677T mutations make it harder to convert folic acid from food into folate.  As I mentioned, it's not as simple as taking methyl folate though. If you have active CBS mutations, you'll be sensitive to methyl donors and should avoid taking methyl folate since CBS mutations cause you to be more prone to high sulfur levels and methyl donors are sulfur based.  If your homocysteine is lower than 6, your CBS is probably active. 


Having COMT mutations also cause sensitivity to methyl donors.  If you have two COMT mutations, you breakdown dopamine at a slow rate.  Since methyl donors drive dopamine, you're going to want to use caution with methyl folate if you have two COMT mutations.


For some people, their body needs methyl folate, but their brain won't like it. That's why it's so important to work with a practitioner who runs the correct tests, knows what to look for, is able to choose the right forms of methyl for both your body and brain, and has you titrate the right amounts according to what you need.


MTHFR A1298C actually doesn't affect folate metabolism like C677T does.  It regulates the amount of the amino acid SAMe that your body produces.  It plays an important role for the methylation cycle since it's the body's main supplier of methyl groups, which are crucial for many processes in the body.  Having one or two MTHFR A1298C mutations can lead to a buildup of methyl groups.  Methyl groups are sulfur based and sulfur converts to ammonia in the body.  People who have MTHFR A1298C mutations often times have high levels of ammonia in their body. 


You might be asking, why does that matter if I have high levels of ammonia?  High levels of ammonia can lead to symptoms such as brain fog, fatigue, joint pain, or mood issues.  It's important to avoid foods that are very high in sulfur and work to detoxify the body of ammonia. 


I have my clients go on a sulfur/ammonia detox protocol when either their CBS and/or MTHFR A1298C is active. Once the body is able to detox the extra sulfur and ammonia, the symptoms start to go away.  It's really important to work on all three phases of your detox pathways along with detoxing the sulfur and ammonia, otherwise it can lead to even more symptoms and issues. If you'd like to learn more about the three phases of detox, check out my blog post titled Why Detox Cleanses Could Do More Harm Than Good.


Want more info about healing from health issues?  Click here to sign up for my free video series. If you're looking for a practitioner and want to contact me or sign up for a free 20-minute health assessment, click here to visit my website.          

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