What is the Cause of the MTHFR Gene Mutation or Deficiency?
I’ve been getting a lot of questions on MTHFR lately and I want to address it.
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MTHFR stands for methylenetetrahydrofolate reductase. It’s a hot topic because “mutations” in MTHFR genes have been connected with not so great things like elevated levels of homocysteine* (high levels = inflammation), low levels of Vitamin B9, fatty liver, etc.🧬🧬🧬
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Concern comes from the inability to “methylate” (convert) synthetic B9 (folic acid) or natural B9 (folate) to the usable form B9 (5-MTHF). Without usable B9, it can’t work with Vitamins B6 and B12 to regulate homocysteine levels in the blood. B9 is also very important for fetal development in pregnancy, among other things.🥚
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Before I dive deeper, it’s important to understand the concept of epigenetics. Basically, our genes load the gun, but the way we live — our environment, lifestyle, nutrition, etc — pulls the trigger. Read this again.🔫
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We’re primarily in control of how our genes express. This is why I believe most genetic tests are useless (and a scam).
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What if MTHFR is a result of being copper-deficient and iron-toxic? Hear me out...
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The liver is the primary site for methylation. When we’re iron-toxic, guess where excess iron gets tucked away first? Primarily the liver, which becomes overburdened and sluggish.🐌
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When we’re iron-toxic, we’re most certainly copper-deficient. Copper is required for proper methylation (slide the post left). To work, all B Vitamins require a copper protein called Ceruloplasmin.💋
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Copper and iron are one part of the puzzle. Genes flip on and off ALL the time depending on the metabolism of the individual, the stressors they’re experiencing and their physiological ability to cope.🚦
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I’ve seen it time and time again, methylation issues change and improve as a person’s metabolic function improves. Plain and simple.
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The most empowering thing we can do is take charge of our health — in large part, our nutrition — so that genetics don’t have to define us.💪
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Some food for thought!
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*It’s important to note that betaine and choline can play a big role in regulating homocysteine levels too.
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This is not medical advice. Always consult your healthcare professional before pursuing any changes to your personal healthcare regime.
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References
Brighten, J. (2020). Is Folate the Same as Folic Acid? Which One is Better?. Retrieved from: https://drbrighten.com/is-folate-the-same-as-folic-acid/?utm_source=ActiveCampaign&utm_medium=email&utm_content=Folate+vs+Folic+Acid+-+It+Matters&utm_campaign=Folate+vs+Folic+Acid+-+It+Matters.
Kouamou, E. Stephanian, A. Khadra, F. de Prost, D. Teillet, F. (2013). An Uncommon Etiology of Anemia: Copper Deficiency. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/23906580/.
Masterjohn, C. (2010). The Sweet Truth About Liver and Egg Yolks — Choline Matters More to Fatty Liver Than Sugar, Alcohol, or Fat. Retrieved from: https://chrismasterjohnphd.com/blog/2010/11/23/sweet-truth-about-liver-and-egg-yolks.
Obeid, R. (2013). The Metabolic Burden of Methyl Donor Deficiency with Focus on the Betaine Homocysteine Methyltransferase Pathway. Retrieved from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798916/?fbclid=IwAR1pc9PAs0wsCSpec6CQU0AX0k9I_yEcFANVaFrTOZIOzt6nNI1BTEFzfJ8.
Robbins, M. (2013). Magnesium deficiency causes Epigenetic Stress!. Retrieved from: https://therootcauseprotocol.com/magnesium-deficiency-causes-epigenetic-stress/?fbclid=IwAR1clGAvUu8CsA9zF_3hLCb-f2fKM3VdEC9lcqQ6EfAtdzi9IdRHPHL-Z74.
Robbins, M. (2016). Iron Toxicity Post #17: Could ‘folate deficiency’ be an epigenetic deficiency of bioavailable copper? Retrieved from: https://therootcauseprotocol.com/mag-pie-alert-20-toxicity-of-iron/?fbclid=IwAR3CLLqqG5lBJE_jR7rbOdbAau745sjnSnQP3UjY0Ni5k5S18lzlT3LfE-s.
Robbins, M. (2016). Iron Toxicity Post #29: Irregular iron blood markers, especially low ferritin is code for more magnesium, ceruloplasmin and B2. Retrieved from: https://therootcauseprotocol.com/mag-pie-alert-30-toxicity-of-iron/.
Weatherspoon, D. Marcin, A. (2019). What You Need to Know About the MTHFR Gene. Retrieved from: https://www.healthline.com/health/mthfr-gene.
Winston, G.P. Jaiser, S.R. (2008). Copper Deficiency Myelopathy and Subacute Combined Degeneration of the Cord - Why Is the Phenotype So Similar? Retrieved from: https://pubmed.ncbi.nlm.nih.gov/18472229/.
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