Unless you’ve been living in a cave in the Galapagos for the last 3 years, you’ve probably heard the letters MTHFR being bandied about in the wellness stratosphere but this can all be very confusing unless you have a PhD. in Genomics.  It gets even more confusing when you find out you have genetic mutations associated with this pathway.  It gets mind boggling when you realize that pretty much all of us have some sort of methylation issues.

Let’s just say, if there are genetic mutations on this pathway and they aren’t addressed you are just waiting until, over your lifetime, toxins build up and create a toxic load  and you have an “event” before you “tip” and develop a chronic illness.    

So let’s see if we can’t break this down into simpler terms.  MTHFR stands for the enzyme Methyl-Tetra-Hydro-Folate Reductase.  What this enzyme, essentially, is responsible for converting folic acid into folate (a more active form of folic acid) and folate into folicinic acid and methyfolate (preferably from folate) and both of these conversions are necessary for different functions.  Before we move on remember, folic acid is converted into folate which is converted into 3 other “incarnations” (I won’t bore you with all the details) until it reaches it’s final incarnation, with the help of MTHFR, into 5-MTHF.  That enzyme is what goes on to lower homocysteine levels in the body converting it to methionine, which is needed at the cellular metabolism level, creation of muscle tissue and helps us with our brain chemistry balance, among many other functions. Let’s not forget one of the most important processes is the production of glutathione. (Our example below!)

 MTHFR, in fact, goes on to donate it’s methyl groups to substances and nutrients (the process of “methylation” which are responsible for the creation of cells, neurotransmitters, creating and supporting immune cells, and even processing hormones like estrogen.  For those of you struggling with estrogen dominance, in my practice, I often use genetic testing to make sure this is not the root of the issue.  

This process also is imperative for the creation of energy and also detoxifies chemicals like BPA (which can break the methylation cycle even without mutations present).

Think about MTHFR as a superhighway. The end of the superhighway is a few different results but one of those results in glutathione which is “the master antioxidant”.  This results in low glutathione.  We will be discussing all the things that can go wrong when the MTHFR pathway is affected and glutathione is low shortly.

Generally, in my practice, I test a fairy full panel for DNA Methylation (expensive but greatly helpful), not simply MTHFR but you can easily get a test that tests for two main MTHFR genes,C677T and A1298C (though there are 7 more that can have mutations).  You can also test for your B-12 status, homocysteine levels (mutations will generally cause high B-12 and homocysteine levels), folate levels, and Glutathione levels, which will generally be low.

So let’s talk about why.

If Gluthathione is one of the major results of a well functioning pathway, you can think of this as our destination, the master antioxidant, as needing a smooth superhighway.  If you have one mutation in one of the genes (and they measure two major ones but there are 50+ that have something to do with the outcome of our health) this is a little like a 2 car accident that spills from the shoulder into one lane.  If you are homozygous and have two mutations of the same allele in the gene then this is like a 4 car pile-up.  You will still get through but you’ll be stuck in traffic for a long long time.  If you have mutations on both genes, this is equivalent to a major traffic jam!  

MTHFR simplified


The above diagram is very simplified for ONE process.  The diagram of all this pathway does will make you run screaming from the room, trust me. Let me just list some of what can go wrong when this mutation occurs.

  1. Autism
  2. Addictions: smoking, drugs, alcohol
  3. Down syndrome
  4. Miscarriages
  5. Pulmonary embolisms
  6. Depression in Post-Menopausal Women
  7. Schizophrenia
  8. Fibromyalgia
  9. Chronic Fatigue Syndrome
  10. Chemical Sensitivity
  11. Parkinson’s
  12. Irritable Bowel Syndrome
  13. Pre-eclampsia
  14. Stroke
  15. Spina bifida
  16. Esophageal Squamous cell carcinoma
  17. Acute Lymphoblastic Leukemia
  18. Vascular Dementia
  19. Bipolar disorder
  20. Colorectal Adenoma
  21. Idiopathic male infertility
  22. Blood clots
  23. Rectal cancer
  24. Meningioma
  25. Glioma
  26. Congenital Heart Defects
  27. Infant depression via epigenetic processes caused by maternal depression
  28. Deficits in childhood cognitive development
  29. Gastric Cancer
  30. Migraines with aura
  31. Low HDL
  32. High homocysteine
  33. Post-menopausal breast cancer
  34. Atherosclerosis
  35. Oral Clefts
  36. Type 1 Diabetes
  37. Epilepsy
  38. Primary Closed Angle Glaucoma
  39. Alzheimer’s
  40. Tetralogy of Fallot
  41. Decreased telomere length
  42. Potential drug toxicities: methotrexate, anti-epileptics
  43. Cervical dysplasia
  44. Increased bone fracture risk in post-menopausal women
  45. Multiple Sclerosis
  46. Essential Hypertension
  47. Differentiated Thyroid Carcinoma
  48. Prostate Cancer
  49. Premature Death
  50. Placental Abruption
  51. Myocardial Infarction (Heart Attack)
  52. Methotrexate Toxicity
  53. Nitrous Oxide Toxicity
  54. Heart Murmurs
  55. Tight Anal Sphincters
  56. Tongue Tie
  57. Midline Defects 
  58. Behcet’s Disease
  59. Ischemic Stroke in Children
  60. Unexplained Neurologic Disease
  61. Asthma
  62. Shortness of Breath
  63. Bladder Cancer
  64. Anecephaly

This isn’t even an exhaustive list. Hashimoto’s patients often have at least a simple heterozygous mutation.  

Now, I’m not going to go into why you shouldn’t take folic acid in your supplement in this post but I can tell you, those with these mutations should be very careful about the type of folic acid they do take as manufacturers in the US put this “stable” form of folic acid in absolutely everything.  Although high levels of synthetic folic acid can be toxic for those without these mutations, those with these mutations have an impaired ability to convert folate into the varying forms until it is reduce to 5-MTHF.  

If you have these mutations it is imperative you get most of your folate from real foods (a post for another time) like green vegetables such as turnip greens, mustard greens, spinach, and romaine lettuce, and other vegetables such as asparagus, broccoli and beets, and citrus fruits.  Folic acid can be toxic as it elevates homocysteine levels in the body.  (More on that later, I promise.)

We are going to be discussing at length the different issues associated with these genetic mutations in future posts but let’s talk about a few things you can do to optimize this pathway.

  1.  Heal your gut!  I cannot stress this enough.  If you have digestive impairment such as leaky gut, IBS, Chron’s Disease or even inflammation caused from food sensitivities that have not been addressed (lucky you if this is the least of your worries), healing your gut to enable you to metabolize and absorb nutrients from nutrient dense real foods.  (Don’t know how to heal your gut??  No problem.  Invest in our “Heal Your Gut For Good e-Course” which gives you sound protocols to support your body in healing on a very profound level.
  2. Avoid vegetable oils, chemicals and other toxic load in your cosmetics, personal and home care products. Reducing processed foods (Sugar+PUFA=inflammation) and choosing Low HI (human intervention) high vibrational foods and using healing herbs such as adaptogens can reduce inflammation and stress.  Remember, processed foods, especially grain based foods are, more often than not, fortified with synthetic folic acid.
  3.  Avoid synthetic folic acid in cheap supplements such as multi-vitamins.  (Sorry One-a-Day).  If you are trying to conceive, it is even more important to know your MTHFR status to know how much and what kind of folate supplement you should be taking.  Depending on the mutation there are several forms of supplementation that are dramatically more effective not to mention won’t contribute to toxic load.
  4. Flushing out heavy metals can be a challenge but because those with this genetic defect have a tendency to not be able to detox them as easily, a heavy metal detox is imperative to optimizing this pathway.  

While you can’t change your genes you can change their epigenetic expression and, in the hands of a qualified professional, it is possible and even probably to bio-engineer your health to the optimum!

Wishing you health, wellness, and beauty,





8 replies
  1. Kay
    Kay says:

    I get so depressed reading your excellent posts..It very much seems that it would take more money than I have to make a difference in my health. I am on US Medicare which acknowledges NOTHING in the way of what they consider alternative treatments. I have never been to a Western medicine MD who even had a clue about how to heal the body if it didn’t involve drugs or cutting something out.

    I have been on the ‘figuring it out’ path for at least 25 years and I do all I can to eat foods my leaky gut body tolerates (getting fewer) and take supplements that don’t come from a drug store shelf.

    In closing, I appreciate that you are in business and need to make a living like the rest of us. Thank you for the knowledge you share so freely for those of us who can’t become your clients. I have passed your blog on to many folks who also appreciate your expertise.

    • thedetoxdiva
      thedetoxdiva says:

      Hi Kay… I have a suggestion…. If you can, it’s not expensive really to take the Heal Your Gut for Good course. I bet if we got your gut permeability issues under control everything else would right itself with only a few well placed supplements and the RIGHT food (which you would tolerate more if your gut healed)… I love being able to help in any way that I can so please email me at and let’s see how I might be able to help further.

  2. C. Key
    C. Key says:

    I’m in the same boat as Kay, needing to change, wanting to find and fix these mutations, but unable to do so because of insurance and income restrictions. Thanks for the info though, and thank you Kay for articulating your circumstances so well.

    • thedetoxdiva
      thedetoxdiva says:

      I am working on a solution for those that can’t afford “private” consults that would address a lot of these issues. It will still cost but it will be a small amount in comparison to private consults and will get you on a road to being healthy.

  3. Kay
    Kay says:

    Thank you Jacqueline (and C. Key). I just got back to this and I really appreciate the responses! I have been involved with the Josh Axe Program and have some of his supplements – probiotics,Vitamin B – which I think have helped a bit.I will definitely sign up for the Heal Your Gut For Good course Jacqueline. Also, Rhodiola was suggested to me to help fried adrenals, and I saw it in your post on adaptogens, so I have started that. I have motivation, determination, and discipline and I know I can be healthier!

    Thanks again for your very informative blog, and for responding.


    • thedetoxdiva
      thedetoxdiva says:

      Kay, please be aware that you will start with ZERO probiotics in the beginning… I know that will be tough to understand but to fully heal your gut you have to tear everything down to build it back up and YES YES YES you can be healthy!

  4. Prudence
    Prudence says:

    I have spent 10’s of thousands of dollars on one natural dr after another, still I have no answers. Blood panel after blood panel, but I do know I have very low glutathione. I was intolerant to taking it just a year ago, I have managed to be able to take it now with no headaches, but I’m sill lost. I have over 100 bottles of supplements in my cupboard and no idea which I should take. I am currently doing different detoxes, but I seem to be getting worse. could this mthfr be the cause of adult acne, melasma?

    • thedetoxdiva
      thedetoxdiva says:

      Yes, if you have an MTHRF or other methylation issue, it can cause adult acne and, to a lesser extent, melasma but how are you taking glutathione? You can’t always assume your glutathione status will improve with certain forms of glutathione.


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