MTHFR Gene Mutation?

dnaWhat is a MTHFR gene mutation and how chemical injury may be involved?

MTHFR is an enzyme that adds a methyl group to folic acid to make it usable by the body. The MTHFR gene produces this enzyme that is necessary for properly using vitamin B9. This enzyme is also important for converting homocysteine into methionine, which the body needs for proper metabolism and muscle growth and which is needed for glutathione creation. The process of methylation also involves the enzyme from the MTHFR gene which enables the effective elimination of toxins from the body.  However, a mutation may have trouble effectively eliminating such toxins from the body.

MTHFR is an abbreviation for methylenetetrahydrofolate reductase.

For additional information, go to National Institute of Health’s Genetics Home Reference: 

More importantly, those 20,000 genes that makes us, there are two copoes of MTHFR which provides instructions for making methylenetetrahydrofolate reductase (MTHFR). When you eat foods that contain folic acid (vitamin B9), MTHFR converts it into methyl-folate, folate’s active form. This process is super important because methyl-folate plays a role in just about everything your body does.

Methyl-folate keeps your body running through methylation

Methyl-folate is a key player in methylation, the process of adding a methyl group to a compound. Methylation is fundamental to the proper function of almost all of the body’s systems [5]. It’s involved in:

  • Repairing and regenerating your cells, tissues and DNA
  • Regulating gene expression and protein function
  • Synthesizing neurotransmitters that influence mood, sleep, behavior, cognition and memory
  • Controlling homocysteine (an amino acid that can damage blood vessels)
  • Keeping inflammation in check
  • Assisting your liver in processing fats
  • Activating and regulating the immune system
  • Modifying toxins and heavy metals

Methylation is hugely important!

Those of us with the MTHFR mutation have a defective MTHFR enzyme. We produce 30 to 70% less methyl-folate than someone without the mutation does

Wellness Mama has an excellent article on how the gene mutation affects those with autoimmune conditions.

There is a way to find out if you have the mutation that inhibits the expulsion of toxins from the body.

People with Multiple Chemical Sensitivities do well to adopt the following tips to fortify thei condition, especially if the mutation cannot be repaired.  It just might help rewire the gene.

  • Focusing on gut health: Especially when the body has impaired ability to use certain nutrients, it is important to focus on gut health so that the body can absorb the nutrients from food as effectively as possible. I personally avoid antibacterial soaps, vegetable oils, processed grains and refined sugars and support my gut with fermented foods and homemade broth. This also helps avoid candida, which can make MTHFR related problems worse.
  • Avoiding environmental toxins as much as possible: Those with an MTHFR gene defect have an impaired ability to eliminate toxins. I avoid plastics, chemicals in beauty supplies and cleaning products, and scented candles, which can all release harmful chemicals. We use houseplants and other methods of cleaning our indoor air, and filter our drinking and shower water.
  • Not taking anything with Folic Acid: As I explained in this post, folic acid is the synthetic form of folate that cannot be used by those with a MTHFR defect and which can be very toxic. I avoid any supplements with folic acid and only take L-MTHF forms, which are the methylated forms that my body can use. I also take a methyl-B12 which is supposed to help the body use L-MTHF.
  • Lots of Leafy Greens: According to Dr. Ben Lynch, dark leafy greens contain the methylated forms of folate that those with a gene defect need. As if we needed more reasons that it is important to consume green veggies… I try to work in green veggies at every meal.
  • Avoid Processed Foods: Again, as if anyone needed another reason to avoid processed foods… Many processed foods have synthetic folic acid added.
  • Avoiding things that can block or deplete folate levels: Certain medications, including hormonal contraceptives can interfere with folate levels, and medicines like antacids can interfere with B-12 absorption.
  • Avoiding Heavy Metals: Heavy metals in diet or environment are harder to remove from the body for those with a gene defect, so I’m careful to avoid these.
  • Help a Body Out: Since those with a MTHFR defect have an impaired ability to eliminate toxins, I do things to help support my body in this process, such as: detox baths, sauna use, drinking enough water, dry brushing my skin and exercise (sweating). I also do strange things like using detox mud shampoo, detoxing my pits, and foot soaks.


Hacking this MTHFR

Check out the blog to find a lot of research on how to hack your genetics if you have the MTHFR gene mutation. Download and listen to the Bulletproof Radio interview with Dr. Ben Lynch, one of the foremost MTHFR experts, to get his help and advice.

Here are my top recommendations for hacking the MTHFR gene mutation:

Genetic testing

The first step is to get tested to see if you have this marker and which variations affect you.

Check out these great resources:

Dr. Amy Yasko’s Nutrigenomic Testing: This site will test about 30 methylation single nucleotide polymorphisms (SNPs), or mutations. It’s pricey but very complete – about $500 when I did it.

23andMe is a more affordable saliva test that gives you raw data (with five fewer SNPs tested than in Dr. Yasko’s test) for only $99.  This site allows you to download your genetic data, which can then be used to determine which mutations you have.

LabCorp and Quest Diagnostics also offer genetic testing with a prescription. You remember prescriptions? They’re like expensive permission slips you have to get signed by a doctor before you can get access to your own data.

The labs will provide you with what is called your “raw data,” a number/letter listing of your genes. There are programs (listed below) that can help you compare your results to a typical human genome and identify where you differ. The differences you find are genetic mutations.

Once you have your raw data, upload it here for methylation interpretation:



MTHFR Support

You can do this testing on your own for basically the cost of a $99 23andme test. It’s way cool to install the SNPtips Firefox plugin, which highlights the specific SNPs you have whenever they appear on a website you visit, so you don’t have to remember your genes or constantly cross reference.

The gold standard is to work with an experienced MTHFR practitioner to determine an effective course of action for your unique genetic makeup. Dr. Lynch’s site MTHFR has an extensive list of trained MTHFR and methylation docs. If you’re “stuck” on a health issue, these are the people who know how to hack it.

Top Ten Bulletproof Hacks for MTHFR Mutation Carriers

Having a MTHFR mutation doesn’t guarantee that you will have any of the negative symptoms or develop the conditions I mentioned previously. MTHFR has more than fifty variants, so it depends on what variants you have, and whether the mutations affect one or both of your MTHFR genes. It’s in our interests as a society to build a world that assumes people have these variants, because people without MTHFR changes do fine on MTHFR-safe foods, but not the other way around.

Having said that – all people with the MTHFR mutation will benefit from these Bulletproof hacks:

  1. Dr. Ben Lynch says, “Repairing the digestive system and optimizing the flora should be one of the first steps in correcting methylation deficiency”, and that includes treating candida because of the toxins it releases, inhibiting proper methylation.
  2. Check your supplements. If any of them has folic acid added, stop taking the supplement or switch brands. Your body won’t process the folic acid well, and it can build up inside you.
  3. Avoid processed foods that have synthetic folic acid added to them.
  4. Get your folate from natural sources, including cooked, dark leafy greens like spinach, kale, bok choy, and Swiss chard. The Bulletproof Diet Roadmap is a valuable reference for the best greens. You should aim for at least 1 cup or more of dark greens every day.
  5. Get your homocysteine levels measured. If your homocysteine levels are high, you may have a methylation issue or a B12/folate deficiency. If so, supplement with methylcobalamin (Vit B12), Vitamin B2, Vitamin B6 and 5-MTHF.
  6. Eat hormone free, grass-fed meats, grass-fed butter or ghee, and organic free-range eggs.
  7. Remove mercury amalgams from a trained biological dentist.  Avoid aluminum exposure in antiperspirants and cookware. Help remove toxins using liposomal glutathione.
  8. Supplement with essential nutrients like methyl-B12, methyl-folate, TMG, N-acetylcysteine, riboflavin, curcumin, fish oil, Vitamins C, D, E, and probiotics.  If you are double homozygous for MTHFR mutations (both your MTHFR genes are mutated), you should advance carefully with methyl-B12 and methyl folate supplementation. Some patients do not tolerate high doses.  Avoid taking high doses of niacin (vitamin B3), which can hinder methylation.
  9. Make time for gentle detox regimens throughout the week.  That can include infrared sauna sessions, Epsom salt baths, and regular exercise or sweating. My favorite detoxers are (you guessed it!) Bulletproof Upgraded Coconut Charcoal and Glutathione Force.
  10. Avoid exposure to toxins like chemical house cleaners etc. They can inhibit methylation, among other things.

Making Bulletproof choices in diet, supplementation, and lifestyle provides a kick-ass antidote to the MTHFR mutation!

If you have the MTHFR gene defect, please share your experiences to help readers know what has been the most useful information for you.

also check


  1. Ramos Ml, Allen LH, Mungas DM, Jagust WJ, Haan MN, Green R, Miller JW. Low folate status is associated with impaired cognitive function and dementia in the Sacramento Area Latino Study on Aging. American Journal of Clinical Nutrition. 2005 December;82(6):1346-52.
  2. Williams E, Stewart-Knox B, McConville C, Bradbury I, Armstrong NC, McNulty H. Folate status and mood: Is there a relationship? Public Health Nutrition. 2008 February;11(2):118-23.
  3. Li P1, Qin C2. Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and susceptibility to ischemic stroke: a meta-analysis. Gene. 2014 Feb 10;535(2):359-64. doi: 10.1016/j.gene.2013.09.066. Epub 2013 Oct 16.
  4. Azimova JE1, Sergeev AV, Korobeynikova LA, Kondratieva NS, Kokaeva ZG, Shaikhaev GO, Skorobogatykh KV, Fokina NM, Tabeeva GR, Klimov EA. Effects of MTHFR gene polymorphism on the clinical and electrophysiological characteristics of migraine. BMC Neurol. 2013 Aug 5;13:103. doi: 10.1186/1471-2377-13-103.
  5. Gilbody S1, Lewis S, Lightfoot T. Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review. Am J Epidemiol. 2007 Jan 1;165(1):1-13.
  6. Prasad VV1, Wilkhoo H. Association of the functional polymorphism C677T in the methylenetetrahydrofolate reductase gene with colorectal, thyroid, breast, ovarian, and cervical cancers. Onkologie. 2011;34(8-9):422-6. doi: 10.1159/000331131.

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From a Yellow Canary of the 21st century, living in our disabling biosphere

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