What the MTHFR?

As many of you who have followed my blog know, my family has struggled with health issues like anxiety, sensory processing, and hormone imbalances over the past five years.  My personal decline in health started 3.5 years ago.  I started gaining weight I couldn't lose.  I had chronic fatigue.  My hair was thinning.  My Fitbit told me I was averaging 4.5 hours of sleep a night even though I could have sworn I was sleeping for at least eight.  My anxiety started to increase.  I just didn't feel like me.  Everyday felt like something to be survived rather than lived.

All of this led me through a long, long journey of finding my good health again.  After being treated for low thyroid, low progesterone and low testosterone, I finally found a piece of information, which I believe is responsible for most (if not all) of my health issues as well many of the health issues my family has struggled with - sensory processing, anxiety, and heart disease.  What is this magical piece of information you ask?  It's a gene called MTHFR.  And yes, it is pretty much a MTHFR.  And you know what else?  Scientists believe as many as 50% of white Americans have at least one mutation of the MTHFR gene.  That tells me these mutations probably aren't genetic screw-ups.  Rather, our ancestors' genetics have not adapted to our current lifestyle.

So here's the brief scientific explanation of MTHFR.  The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase.  This enzyme plays a role in processing amino acids (like serine, glutamine, cysteine, tyrosine, etc.), the building blocks of proteins.  Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate.  This reaction is required for the multi-step process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.

I know that was a lot of physiology.  The short story is that people who have one or two mutations of MTHFR need an active version (and an extra amount) of folate.  Sadly, most of us don't get that in an American diet.  Folate is found naturally in beets, citrus fruits, green veggies, and some beans.  But most Americans get the majority of their folate as a supplement called folic acid (remember that from pregnancy?).  In 1998, the FDA mandated wheat flour be supplemented with folic acid.  Folic acid is a more stable form of folate and easier to add to foods.  The FDA mandated this change because it was proven that folate deficiency was a direct cause of spina bifida and anencephaly.  And indeed, this nutritional change in our foods has decreased the number of children born with spina bifida by 1300 each year.  However, the rate remained high for Hispanics.  So in 2016, the FDA mandated folic acid be added to corn meal to ensure this ethnic group was equally protected.  Folic acid is also in your multi-vitamin.  If you take a B-complex, it's in that, too.  So if you live in Texas and take a multi-vitamin, that means you are getting A LOT of folic acid.  (But even if you lived in another country previously, you have a good chance of being highly supplemented.  86 countries currently mandate folic acid supplementation in wheat flour.)

Even for those who don't have a MTHFR mutation, this excess of man-made folic acid can be harmful.  It can cause abdominal cramps, diarrhea, rash, sleep disorders, irritability, confusion, nausea, stomach upset, behavior changes, skin reactions, seizures, gas, and excitability.  I can tell you that many people theorize the reason people who are gluten-free experience health improvements is not because they are giving up gluten.  It's because they are inadvertently cutting out the excess man-made folic acid.

But what if you are among the 50% who HAS at least one mutation?  This high intake of folic acid is harming you on two fronts.  Firstly, is what I mentioned above.  Secondly, you most likely aren't actually getting enough active folate (remember you need even more that an average person needs) to complete the methylation process.  What does methylation do for your body?  When optimal methylation occurs, it has a significant positive impact on many biochemical reactions in the body that regulate the activity of the cardiovascular, neurological, reproductive, and detoxification systems, including those relating to:

• DNA production (have you struggled with miscarriages as a result of chromosomal abnormalities?)
• Neurotransmitter production (anxiety, ADHD, sensory processing)
• Detoxification (getting rid of the chemicals you ingest or absorb)
• Histamine metabolism (hello allergies)
• Estrogen metabolism (getting rid of the chemicals/added hormones your body interprets as estrogen...which if you don't eliminate these estrogens, you are at a higher risk of cancer)
• Eye health
• Fat metabolism 
• Cellular energy
• Liver health (do you feel nauseous when you drink alcohol?)

To sum it help, optimal methylation is critical to help keep the cells in your body and brain healthy, energetic, and cancer-free.  If you have one or more of these mutations, you are at risk for any of the above processes failing.  If you have one of these mutations and are pregnant, you are at risk for not only passing the genes on to your children, but also depriving your unborn child of adequate methylation during the pregnancy.  Scientists do not fully understand yet what the consequence of this is.  However, early research indicates there is a correlation between the mother's methylation and the DNA expression of the child.  There is no definitive conclusion yet, but there are many active studies assessing the impact of poor maternal methylation on the increase of disorders such as autism, sensory processing, ADHD, and anxiety.

So if you are reading this and thinking this might be me.  This might be my kids.  What do I do?  Sadly, the answer isn't simple with our current health system.  But you do have a lot of options.

1. I highly recommend finding an holistic integrative medicine doctor.  An holistic doctor is a medical doctor who focuses on healing the whole body through nutrition and supplements.  If you live in the Austin area, I highly recommend the Wiseman Practice.  They have literally given me my life back.  They treat adults and children.  And they take insurance, which is rare in this field.  
2. If that isn't an option, talk to your regular GP or pediatrician and request the genetic test.  We used this method for getting my husband and our kids tested.  Insurance may or may not cover the test, but the test isn't terribly expensive ($150).
3. Ask your doctor to test your homocysteine levels.  High homocysteine is often an indication of the the MTHFR gene.
4. If the above options won't work, there are online genetic tests like 23andme.  However, this option usually requires you to send your 23andme results to another lab to get the final results.  It's complicated and more expensive than just asking your doctor.
5. And last but not least, if you can't verify your genetic makeup through testing, you can make some of the nutritional changes without knowing your genetic makeup.  I wouldn't recommend taking supplemental 5-MTHF without knowing if you have the mutations, but you can still eliminate folic acid and change your multi-vitamins to vitamins that use the active forms of folate and vitamin B.

Our family spent several months making changes to our diets, household items and supplements.  I'm so happy to report, we are a new family!  My husband's anxiety has improved tenfold.  He is like he was five years ago, which I can say has dramatically improved our relationship, too.  I feel like I did five years ago.  I have energy, I have more patience with my kids, and I have confidence I have added quality years to my life.  Per my son's therapist, "It's like night and day" since we changed his diet and supplementation.  And our daughter grew 2.5 inches with a normal weight gain (rather than above average weight gain and below average growth) this past year.  In short, we are seeing success!

There is so much more to write about this subject, and I promise I'm going to.  I will tell you about the mutation possibilities, supplementation protocols, and links to hormone issues, thyroid issues,  anxiety and sensory processing.  It's just too complicated to include it all in one post.  If you have questions in the meantime, please feel free to ask!