Surprise, MTHFR! (I’m a Mutant)

An image of a spiral stair case turned at an angle with a colorful image of outer space set behind it to represent the wonders of DNA and MTHFR

Believe it or not, I didn’t just cuss you. And even though my blog title is an attempt at being playful, I’m actually not kidding about being a mutant. In my last post, I mentioned recently receiving some additional news from the doctor. Well, here’s the curveball…

I have an MTHFR mutation.

Cue the ominous music … 

I’m picturing the Jaws theme,
but choose the audio track that works for you ;P

Say What? 

You read that correctly, I had some DNA testing done and discovered a mutated gene.

Since I’ve been struggling for some time with why I’m still not yet thriving (mentally speaking), even after giving it a hard go for over a year after discovering my ADHD, my therapist encouraged me to get with my doctor and see what might be possible. I’ve had a bit more anxiety than I care to stand, depression is nipping at my heals and my focus is all over the place, along with many other smaller seemingly unrelated physical symptoms.

So, mid-March my doctor sent off some cheek swabs and ran some pharmacogenomic DNA testing last month, combining the science of drugs (Pharma) with the study of genes (genomic) to find effective and safe medications and doses that would work well with my genetic makeup rather than shooting in the dark. As a result, one of the things we discovered was that I have a C677T MTHFR mutation.

A larger image of a spiral stair case turned at an angle with a colorful image of outer space set behind  it to represent the wonders of DNA and MTHFR
Yes, this is a spiral staircase turned at an angle in front of outer space.
That’s what you call “my-brain-on-ADHD’s” creative solution to not having a relevant DNA image for you. You’re welcome!

What is MTHFR?

Methylenetetrahydrofolate Reductase (MTHFR) is an enzyme our bodies make by way of instructions provided by the MTHFR gene. This enzyme plays a critical role as a catalyst for numerous functions in our body. MTHFR is essential for converting folate and folic acid (synthetic folate) — each a form of Vitamin B9 — into it’s biologically active form which is integral for methylation.

Methyl-Who Now?

The methylation cycle is a metabolic process that switches genes on and off, repairs DNA, makes molecules more stable, plays a critical role in detoxification, the immune system, and some 200 cellular processes within the human body that take place over a billion times per second!

In fact, methylation and demethylation (it’s opposite action) impact biochemical reactions regulating cardiovascular, neurological, and reproductive systems. DNA and neurotransmitter production, eye and liver health, cellular energy, and the metabolism of histamine, fat and estrogen are all related and affected by MTHFR and methylation.

But, What Does This Mean? 

By and large, we (with an MTHFR mutation) have a harder time getting nutrients in and a harder time getting toxins out than those without the mutation.

Is This Rare?

From what I’ve learned so far, MTHFR mutations might actually be relatively common. Researchers suspect that 30-50% of us (humans on planet earth) may carry some type of mutation in the MTHFR gene.

Tell Me More…

The two most well-studied and tested polymorphisms (mutations/variants) are C677T and A1298C. Mutations can be inherited by one or both parents as we all have two copies of MTHFR. Having one mutated allele is commonly associated with increased risk of health problems, but having two theoretically carries a much greater risk.

Thankfully, my mutation involves only one allele. I am heterozygous for the C677T polymorphism. While the “normal” version of my MTHFR gene would be be C677C (c=cystosine), my mutation has made the gene C677T (t=thymine) instead.

What Is Most Concerning?

The alleged associated risks seem to primarily be related to: 

  • Folate Metabolism Efficiency – While some of the possible mutations seem to have only minor influences on enzyme activity and health, C677T carriers of the T allele (like myself) are roughly 30-35% less efficient in terms of folate metabolism. However, carriers with two mutations may have a drop in efficiency as much as 70%. And even rarer combinations of homozygous (2 similar alleles) of both 677 and 1298 would have an even higher drop. 
  • High Homocysteine Levels – One of the biggest concerns for those with an MTHFR mutation is the effect it may have on homocysteine levels in the blood. Nutrient deficiencies of Vitamin B6, B12, and folate (B9) increase homocysteine levels. Linked to a wide range of health problems, homocysteine is an amino acid. It is an independent risk factor for heart disease, stroke, and other forms of cardiovascular disease. It also causes inflammation in the body. Homocysteine is naturally found in the body, but gets broken down by the active form of folate. 
  • Low Glutathione Levels – Another key point worth mentioning, is that MTHFR plays a role in the production of glutathione, the body’s most important antioxidant. Glutathione plays a major role in the body’s detoxification of harmful, disease-causing toxins. When the body’s ability to produce glutathione is decreased, the disease process is enhanced due to the build-up of toxicity in the body. 

Does This Mean We’ll Get Sick?

Unfortunately, here’s where it gets tricky. There’s a bit of controversy over this. There are many websites and sources boldly claiming that the common genetic variants in MTHFR (namely C677T and A1298C) can cause a wide array of health conditions, ranging from blood clots and cancer to autism and migraines.

But, on the other hand, there are reputable websites stating that they don’t feel the existing scientific data supports the vast majority of claims that MTHFR mutations impact human health. From the stance of these websites and sources, evidence is conflicting or inconclusive so far.

However, there is undisputed research showing impaired methylation directly correlated with neural tube defects. It is commonly agreed that women with two copies of the C677T variant have a higher risk of having a child with a neural tube defect like spina bifida. Adding folic acid supplementation during pregnancy is also widely accepted to reduce the risk for these woman (as well as all women).

Additionally, research exists showing impaired methylation is associated with cerebrovascular and cardiovascular disease, inflammatory bowel disease, colorectal cancer, and psychiatric disorders. Disorders such as autism, ADHD, autoimmune diseases, multiple sclerosis, fibromyalgia, heart disease, irritable bowel syndrome (IBS), addictions, and miscarriages have been linked to MTHFR mutations as well. There are links between Vitamin B12 deficiency and dementia.

My Thoughts

To begin with, it just seems logical that toxic environments from air quality to stress levels would have a major impact on any body, and especially a body with reduced functionality to withstand said toxins. I would think we (individuals with a mutation) might be at risk for a variety of related health conditions due to disruption of the methylation cycle. But, I’m no doctor.

For example, because these mutations can alter neurotransmitter and hormone levels, there are suspected correlations to Autism and ADHD. This might explain my ADHD and/or why I’ve struggled with anxiety and depression much of my life. And then again, these things might be unrelated.

Generally speaking, even though there is debate, and research is still evolving, it just makes sense to me that overall wellness might be affected if the function of the (MTHFR) enzyme is negatively impacted by a gene mutation — especially if the way we metabolize and convert important nutrients from our diets into active vitamins, minerals and proteins could be compromised.

My Takeaway

Regardless, detoxification would be a good idea for anyone, and I feel it’s a particularly important to me. I want to learn about MTHFR and discover what works best for me and my health.

Currently, my doctor’s goals for me with regard to my MTHFR mutation are to increase folate with diet (naturally) and with supplements and to do what I can to detox my body and detox my stress. For example, working up a sweat a couple times a week is also on her suggestion list to help with the detoxification.

What’s Your Mutant Super Power?

If any of you out there have a similar mutation, I’d love to hear about it! 

What are your thoughts?