MTHFR Mutations


Just when you thought it couldn’t get any worse with Lyme. Enter the MTHFR gene mutation. Oh yes, it is just a barrel of fun having Lyme, as I am sure you, the reader are very aware. I am by no means a MTHFR guru, but being recently diagnosed with this little treasure, I have immersed myself into everything I could get my hands on. Here is a basic                                                 explanation of the MTHFR.

What is a MTHFR Mutation?

MTHFR stands for methyl-tetrahydrofolate reductase, an enzyme that is responsible for the process of methylation in every cell in your body. Methlylation occurs when your body takes one substance and turns it into another, so it is detoxified and can be excreted from the body. Ideally, when treating Lyme, your body should be functioning at an optimal level. Easier said than done, I know. If you are killing off spirochetes and toxins can’t exit your body fast enough, then it can make an already bad situation worse. The last thing you want is dead bacteria recirculating in your body, making you even sicker! If you can’t process vital nutrients (B vitamins, folate, glutathione etc) the it just adds fuel to the fire. There are over fifty known MTHFR variants, the two primary ones are called C677T and A1298. 

When people with MTHFR mutations are exposed to toxins, they have a harder time getting rid of them which can cause some very serious illnesses.  The methylation process is responsible for:

  • Cellular Repair: synthesis of nucleic acids, production & repair of DNA & mRNA
  • Detoxification and Neurotransmistter  Production:  interconversion of amino acids
  • Healthy Immune System Function:  formation & maturation of red blood cells, white blood cells & platelet production
  • The 677T variant is most commonly associated  with early heart disease and stroke and the 1298C variant with a variety chronic illnesses, but either anomaly can cause a wide variety of health problems.  The MTHFR anomaly is reported out as heterozygous or homozygous.  If you are heterozygous that means you have one affected gene and one normal gene.  Your enzyme activity will run at about 60% efficiency compared to a normal.  

If you are homozygous or have 2 abnormal copies, then enzyme efficiency drops down to 10% to 20% of normal, which can be very serious. The worst combination is 677T/1298C in which you are heterozygous to both anomalies. (Welcome to my world, I am compound heterozygous – one copy of each mutation) Many chronic illnesses are linked to this anomaly. Fibromyalgia, irritable bowel syndrome, migraines, chemical sensitivity, frequent miscarriage and frequent blood clots are all conditions associated with MTHFR anomaly.

Glutathione is the body’s primary antioxidant and detoxifier. One of the ways that MTHFR gene mutation can make you susceptible to illness is by lowering your ability to make glutathione.    People with MTHFR anomalies usually have low glutathione, which makes them more susceptible to stress and less tolerant to toxic exposures.  Accumulation of toxins in the body and increased oxidative stress, which also leads to premature aging.


When you have poor methylation your body’s levels of homocysteine will elevate. Homocysteine is a amino acid that is toxic to the body.  Dr. Kilmer McCulley (author of “The Homocysteine Revolution”), discovered that high levels of homocysteine caused heart disease and stroke in animal studies.  He then found that B vitamins decreased the homocysteine levels, and therefore stopped the heart disease process. On rare occasion a bad combination of the 50 MTHFR genes will pair up and a person will end up with the inability to process metals and sulfates. The metals will deposit directly into their brain causing Autism, and sulfates will raise a naturally occurring homocystine levels to toxic state, which destroys nerve and muscle tissue.How do our bodies keep homocystine in check? Folic acid breaks down homocystine.  However, people with MTHFR have issues with absorbing or maintaining folic acid (they aren’t sure), so they have low levels of it and their homocystine can get out of control. They also have a tendency to have B vitamin deficiency. We also have to avoid all metals and sulfates, including vaccinations (flu has thermerisol and those that don’t have aluminum). High levels of homocystine causes clotting problems, which causes infertility or miscarriage.

Treatment for MTHFR

Fortunately, you can easily be tested for the MTHFR mutation (you can order a complete genetic profile yourself through 23andMe).  If you find out that you have one or more of the gene mutations, you can supplement with methyl-folate and methyl B12, the active forms of these B vitamins. You can also supplement with liposomal or acetyl-glutathione, the end product of the pathway. Glutathione is poorly absorbed so either the liposomal form or a precursor, called n-acetylcysteine (NAC) may be used. There are prescription medicines, that also contain methyl-folate: Deplin, MetanX, CerefolinNAC are a few. Methyl B12 can also be given as shots, nasal sprays, and sublingually.  The intramuscular shots are by far the most effective method according to most Lyme patients. You can get these from your doctor or online, by clicking here. (USA only) Please note that there are HUGE differences in cyanocobalamin and methylcobalamin. Think METHYL METHYL METHYL! More can be read here.

The choice of nutrients will vary from patient to patient and should be done under a doctor’s supervision. A fellow ‘Lymie’ just warned me of something called ‘Methyl trapping’. I will investigate this further and update this post accordingly, in the meantime go LOW AND SLOW when adding supplements! Thanks Janice 🙂

Some conditions that may be associated with MTHFR gene mutations

  • Autism
  • Addictions: smoking, drugs, alcohol
  • Down’s syndrome
  • Frequent miscarriages
  • Male & female infertility
  • Pulmonary embolism and other blood clots
  • Depression & anxiety
  • Schizophrenia
  • Bipolar disorder
  • Fibromyalgia
  • Chronic Fatigue Syndrome
  • Chemical Sensitivity
  • Parkinson’s disease
  • Irritable Bowel Syndrome  
  • Stroke
  • Spina bifida
  • Migraines
  • Hyperhomocysteinemia
  • Breast cancer
  • Atherosclerosis
  • Alzheimer’s
  • Multiple Sclerosis
  • Myocardial Infarction (Heart Attack)
  • Methotrexate Toxicity
  • Nitrous Oxide Toxicity 


Other Random Facts…

  • Rather than treat with medications that try to address medical conditions, treat MTHFR to get to root of the problem.
  • Glutathione is decreased in MTHFR patients- related to memory problems in Alzheimer’s. It clears body of toxic metals. Liposomal is best.
  • Having the gene defects means you don’t clear metals well. Trying to clear them you can overload system and symptoms worsen over time. Go slow!
  • Limit heavy metal exposure. Stop smoking, remove mercury fillings. Use natural cleaners, beauty products etc. Flu vaccine and other vaccines make autism worse in those with MTHFR.  If you must get one, get one without mercury and aluminum.
  • Drink filtered water, reverse osmosis appears to be better.
  • Zantac, prilocect, diabetes drugs, etc can cause problems in MTHFR patients.
  • Consider heavy metal testing. Do chelation if a lot.
  • Methyl B-12 and Methyl B-9 are a must have. B-9 most important.
  • Do not eat Shark, Swordfish, King Mackerel, or Tilefish because they contain high levels of mercury.  Albacore (“white”) tuna has more mercury than canned light tuna.
  • Five of the most commonly eaten fish that are low in mercury are shrimp, canned light tuna, salmon, pollock, and catfish.
  • Fish sticks and “fast-food” sandwiches are commonly made from fish that are low in mercury.
  • In 2009, the Environmental Health Journal reported on a study conducted by a team led by Renee Dufault that found high fructose corn syrup had high levels of mercury.

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