A Beginner’s Guide to MTHFR Gene Mutations

A Beginner’s Guide to MTHFR Gene Mutations

I have been spending a lot of time researching MTHFR gene mutations and thought I would share the resources I’ve collected with you because I think it can be a big piece of the healing puzzle.  I don’t think it’s being talked about enough, so it’s important to spread the word! The sooner you put the pieces together, the sooner you can get your body feeling better, right?!

A Beginner's Guide to MTHFR Gene Mutations // This House of Joy

First of all, you may be wondering what on earth a MTHFR gene mutation is!   MTHFR gene mutations (or polymorphisms) are defects that affect the body’s ability to methylate. Methyl-what?!  Stay with me…

What is methylation?

April Ward-Hauge MS, NP, BCIM says methylation is what makes you “healthy and human.”  She goes on to say, ”Though this highly intricate process occurs within each cell as well as in the fluid supplying the brain and within the liver, it is responsible for the most vital undertakings throughout body chemistry. Methylation determines who we are, what we look like, and how we behave and it is central to our physical, emotional, and mental wellbeing. Without methylation, we could not survive… ”

The functions of methylation are as follows:

  • Turn on and off genes (gene regulation)
  • Process chemicals and toxins (biotransformation)
  • Build neurotransmitters (dopamine, serotonin, epinephrine)
  • Process hormones (estrogen)
  • Build immune cells (T cells, NK cells)
  • DNA and RNA synthesis (Thymine aka 5-methyluracil)
  • Produce energy (CoQ10, carnitine, ATP)
  • Produce protective coating on nerves (myelination)

A Beginner's Guide to MTHFR Gene Mutations // This House of Joy

MTHFR gene mutations can cause many different conditions such as autism, schizophrenia, fibromyalgia, chronic fatigue syndrome, various cancers, type 1 diabetes, and more.  (To see the full list of symptoms and conditions, check out the graphic below or MTHFR Mutations and the Conditions They Cause).

If you are chronically ill, I highly encourage you to work with a doctor and get tested for MTHFR gene mutations. I personally have the A1298c mutation and plan on doing further testing to see if my son and I have any others.  If you are trying to conceive or currently pregnant, it would be a good idea for you to get tested as well so that you can make the best health decisions possible for your baby. {See Pregnancy and MTHFR}

A Beginner's Guide to MTHFR Gene Mutations // This House of Joy

If you want to know more about MTHFR gene mutations, please check out the articles, videos, slide presentations, and books listed below.  I am still pouring over all of it myself…If I only had more hours in the day!  Be warned: Some of these resources are very technical and might feel like you are in high school science class!  Don’t let that deter you.

For an easy-to-read explanation (with diagrams!) of methylation, check out The Methylation Community & Your Body Chemistry.

More Articles About MTHFR Defects:




Testing for MTHFR

A Beginner's Guide

Find a Practitioner

Very Important: I highly recommend finding a doctor or holistic practitioner who is well-versed in MTHFR defects because there is a risk of making things worse if you’re not careful! Here are a couple of databases to try:

Got MTHFR? Get Support!

Websites and Blogs Dedicated to MTHFR:

I hope this gives you a good starting point to starting your MTHFR research.  Don’t forget to bookmark or pin this post, because I will be updating it as I find new resources!


Do you have (or suspect you have) a MTHFR gene mutation? If I left out any important resources, please let me know so I can include them in this list!

This House of JOY

Image credit: Pixabay

This post was shared with Wellness Wednesday.

About Sherry McAnelly

Wife & Mommy. Real food advocate. Essential oil enthusiast. Chocoholic. Lyme warrior. All things work together for good.


  1. This is a great article and resource. I am pinning and sharing around and will keep this for when others ask me questions that this may apply to. Thank you.

  2. This is excellent! I started researching MTHFR mutations when I stumbled upon the realization that my triplets may have tongue ties. Sharing this – we definitely need to get the word out!

  3. This is a subject I have never heard of… Thank you for introducing it as you did and explaining it in a way easier to understand.

  4. Thank you so much for this great resource. I have a lot of studying to do now with all those links. Can’t wait to watch that video! :)

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