Sunday, April 19, 2015


I am all about throwing around acronyms lately and today's acronym of the day is "MTHFR". MTHFR stands for methylenetetrahydrofolate reductase.  MTHFR is an enzyme that is responsible for the methylation process of every cell in your body. There are mutations of this important genetic piece that can disturb the way your body works and inhibit detoxification of toxins causing issues with cell repair, immune system function, disease, etc.

Heterozygous mutations are the most common/less severe. This means you have one normal gene and one mutated gene.  The mutations will either be on the 1298 or 677 gene.  Heterozygous mutations occur in approximately 35% of the population.

Homozygous mutations are when you have two affected genes on either the 1298 or the 677 gene.  This is less common than a heterozygous mutation and is more severe.  A Homozygous C677T occurs in approximately 5-10% of the population.  A Homozygous A1298T is more common, but less dangerous.

Compound Heterozygous mutations are not a common and more concerning then a hetoerzygous mutation or a homozygous A1298T mutation.  This is when you have one mutation on the 1298 and one mutation on the 677 gene.  This combination occurs in approximately 17% of population.

As you can see MTHFR mutations should not be considered a rarity.

This test is often given as a part of the RPL panel because of blood clotting tendencies and lack of folic acid absorption due to these mutations. I recently due to the RPL panel found out I am compound heterozygous. Unfortunately, this is considered the most worrisome combination with the potential of leading to chronic illness, blood clotting and pregnancy loss.

Our pregnancy losses were chromosomal, therefore we are unsure if the MTHFR gene mutations could have or could have not been a secondary cause.  This doesn't mean that the mutations will not be an issue in future pregnancies, so treating it accordingly is crucial.

What am I currently doing to help assist my body with its bumps in the methylation process due to MTHFR?
  • I am no longer taking folic acid, but rather folate.  The MTHFR A1298C gene mutation inhibits my body from breaking down folic acid.  Therefore, I need to take folate rather than folic acid.  I am also attempting to fill my diet with plenty of natural folate. I am also avoiding folic acid found in food, because my body cannot use it.  The excess folic acid will sit in my body as a toxin.
  • Supplementing with Zinc, B Vitamins (natural/methyl form) and Magnesium.
  • Avoiding toxins - I have always been pretty good at this as I avoid almost all toxins in our household and personal care products.  I am even more cognizant of avoiding them now.  I truly believe since switching to my more natural lifestyle 5+ years ago I have seen an improvement in my health (allergies, psychological/emotional state, headaches).  After reading more about MTHFR I believe it is due to a "cleaner" less chemical ridden lifestyle.
  • Eliminating dairy and gluten. I promised that I would do this on a trial basis to see how I feel. It is suggested those with my mutations forgo dairy and gluten.  My RE also mentioned her concern regarding inflamation, so eliminating these two is worth a shot. I have always dealt with some serious stomach bloating and headaches/sinus headaches. I will never forget growing up and my Mom telling me she thought I had allergies to cheese because she noticed a pattern of my ridiculous cheese eating and headaches and mood changes.  My particular mutations more often than not lead to auto-immune disorders if not treated.  Avoiding dairy and gluten will hopefully prevent me from an autoimmune disorder in the future. Wish me luck, because I love cheese and bread
  • Working on managing stress and practicing mindfulness.  Stress inhibits methylation.
  • Avoiding alcohol - Alcohol is a toxin and your body has an even more difficult time detoxing the alcohol if you have MTHFR gene mutations.  In addition, you are much more sensitive to alcohol depending on how well your body is methylating. (Aha! Finally an answer to those nights where I lost my pants)
  • Daily baby aspirin
MTHFR has been more empowering than scary.  I have gained so much knowledge over the last months when it comes to MTHFR and myself.  When it comes to MTHFR doing your research, listening to your body and being proactive through a healthy/toxic free/well supplemented lifestyle is the best medicine.  I am confident I have a solid understanding on the best way to live my life from hear on out.   

This blog covers the very, very bare minimum of MTHFR.  Here is a great article and blog to get you started in your research, if you choose to learn more.  You can also test your own DNA using a home kit from 23andme.

No comments:

Post a Comment