I married a mutant (recognizing and understanding MTHFR)

Bill and I rarely do personal posts here but, since we work with so many first responders across North America, we wanted to share this data in case it can help those dealing with toxins day in and day out.

As we explained in our May 2013 Celiac Disease post, Bill has been battling major health issues since 2000. (In hindsight he’s had issues his entire life.)

Over the past 19 years he’s beat leukemia / T-cell disease and a massive parasite infestation, moved out some major heavy metals and other toxins, and continues to heal his digestive tract due to Celiac Disease — among other things.

But he continued to struggle with extreme fatigue / lack of energy, pain, chemical sensitivities, migraines and other issues. He was still living on adrenaline, sugar and caffeine (as he has most of his life), so our naturopath, Dr. Garrett Smith, ran more tests in 2013 and discovered Bill had some strange imbalances of certain vitamins and minerals.

A key thing that stood out was Bill had high levels of folic acid (folate) and B-12 (among other things) meaning his body was not absorbing those properly causing him to be anemic at the cellular level. Dr. Smith suggested he get a “MTHFR Genotype Test” done at our local lab and the results explained why Bill has imbalances and trouble absorbing certain things — he’s got a defective (mutated) MTHFR gene. So basically … I married a mutant.

What the heck is the MTHFR gene?

At first glance MTHFR looks like an acronym for a cuss phrase. However, the MTHFR gene is responsible for making a functional MTHFR enzyme called “methylenetetrahydrofolate reductase”. According to NIH.gov, this enzyme plays a role in processing amino acids, the building blocks of proteins. MTHFR is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins, utilize antioxidants and other important compounds that support your immune system, cell regeneration and more per StopTheThyroidMadness.com.

In other words — as Dr. Ben Lynch explains — “MTHFR plays a key role in a process called methylation. If you have an MTHFR gene mutation, your methylation cycles may not be working optimally.

Methylation is the MAIN factor that affects epigenetics–the body’s response to our environment. Epigenetics determines which parts of the human blueprint, our genetic code, are turned off or on.

If the MTHFR gene is slightly altered (mutated), the MTHFR enzyme’s shape becomes distorted. Enzyme function depends a lot on shape. It is similar to the grooves on a key. If the grooves on a key are slightly different than the lock, the key may fit and turn the lock a little but it does not unlock the door. The genetic code of the MTHFR enzyme must be perfect in order for it to function properly.”

So what does all this mean?

As Wellness Mama writes — “Those with a defective MTHFR gene have an impaired ability to produce the MTHFR enzyme (estimates range from 20%-70% or more). This can make it more difficult to break down and eliminate not only synthetic folic acid but other substances like heavy metals.

Since folic acid can’t be converted into the usable form, it can build up in the body, which can raise levels of homocysteine. High homocysteine levels are associated with a higher risk in cardiovascular disease. This also affects the conversion to glutathione, which the body needs to remove waste and which is a potent antioxidant.”

Bottom line, a defective MTHFR enzyme may lead to a variety of health problems like autism, birth defects, anxiety, depression, diabetes, cancer, heart disease, stroke, chemical sensitivities, and more.

It also means if you take supplements there are certain methylated ones (e.g. folic, B-12, riboflavin, glutathione, etc.) that someone with a mutated MTHFR gene should take so the body can absorb them properly.

And since someone with a mutated MTHFR gene may need massive methylation due to toxicity or excess of some sort (be it chemicals, stress, anxiety, overwork, etc.), then their body demands extra methylfolate – and they cannot produce it, explains Dr. Ben.

Bill’s lab results show his MTHFR enzyme activity is 50%-60% of normal activity meaning his body only produces 40%-50% of what is needed to function normally ~ and, when stressed like he has been with so many health problems, he has no extra output or reserve enzymes thus causing tremendous fatigue, depression, pain, etc.

Balancing the cellular signaling is critical for not only helping my sweet mutant to continue to detox, but it will increase energy levels and help improve other health issues since his body will be able to absorb its needed nutrients. He’s still not quite 100% yet, but since he’s been taking specific methylated B vitamins, L-glutathione, a thyroid med, D-Ribose, etc., he’s getting more energy, his body core temperatures are almost normal, and he’s not having to supplement quite as much as before.

First Responders please pay attention to your bodies

As mentioned above, one main reason we are sharing this is because we work with responders across the country and some (or most) may want to look into MTHFR stuff further – esp. if you…

  • Deal with toxic fumes or other chemicals on a regular basis;
  • Live on adrenaline, caffeine or other stimulants;
  • Have bouts of extreme tiredness or fatigue;
  • Have low body temperatures at wake-up and/or have cold hands / feet;
  • Struggle with migraines, depression, digestive issues, joint pain, diabetes, high blood pressure, cardiac problems, etc.

An easy way to start is use 23andme.com to get your Health + Ancestry genetic testing kit (about $200) that you can do at home. You just spit in a tube and send it in to get your unique DNA genetics.

Then you can access and send your raw data for analysis using Strategene to determine if you have MTHFR and/or other genetic issues. You also may want to consider discussing the findings with a health professional trained in MTHFR and methylation.

Learn more about MTHFR at NIH.gov or MTHFR.net to see if you too are a mutant.

Stay safe and healthy, j & B

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