Have you heard about the MTHFR gene mutation? If not, don’t worry…it’s relatively new, and it’s mostly just cutting edge functional medicine and anti-aging physicians who talk about it.
Researchers link it to an increased susceptibility to heart disease, colon cancer, stroke, recurrent miscarriage, Alzheimer’s disease, and depression [2,3]. 40% of people have it  and I’m one of them (some guys get all the luck!). This article will tell you how to find out if you have it too, and how you can protect your body and influence your genes to combat this common mutation.
What is the MTHFR gene, exactly?
The human body contains over 50 trillion cells, and each cell contains a complete set of instructions for making you. The instructions are encoded in your DNA. Short segments of DNA are called genes. Your DNA is the cookbook, your genes the recipes. Genes encode for specific proteins, and those proteins play a crucial role in the function of the body’s tissues and organs. Humans have about 20,000 genes. 
Among those 20,000 genes is the MTHFR gene. Most people have two copies of it. It 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 . 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 .
That can be bad news. With lower methylation, your performance can suffer, and you have a higher risk of developing many different diseases. But don’t fret: there are ways to increase your methylation and keep yourself running at your best. It’s a simple problem to hack, if you know about it.
Having the MTHFR mutation is an opportunity to eliminate tipping point factors that lead to disease, maximize your methylation, and optimize your diet and nutrition to change how your cells function.  Your genes are one of many factors influencing your performance. You determine your future.
Hacking this MTHFR Gene
Download and listen to the Bulletproof Radio interview with Dr. Ben Lynch, one of the foremost MTHFR experts, to get his help and advice. You can also check out his blog to find a lot of research on how to hack your genetics if you have the MTHFR gene mutation.
Here are my top recommendations for hacking the MTHFR gene mutation:
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:
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:
- 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.
- 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.
- Avoid processed foods that have synthetic folic acid added to them.
- 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.
- 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.
- Eat hormone free, grass-fed meats, grass-fed butter or ghee, and organic free-range eggs.
- Remove mercury amalgams from a trained biological dentist. Avoid aluminum exposure in antiperspirants and cookware. Help remove toxins using liposomal glutathione.
- 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.
- 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.
- 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.