What’s the big deal about MTHFR?

By: Jill Carnahan, MD

MTHFR stands for methyl-tetrahydrofolate reductase, an enzyme that is responsible for the process of methylation in every cell in your body.  MTHFR is a common genetic variant that causes this key enzyme in the body to function at a lower than normal rate.  Although there are over fifty known MTHFR variants, the two primary ones are called C677T and A1298.  Your doctor can order a blood test to determine if you have these genetic variants.

What’s the big deal about methylation?

Methylation is a core process that occurs in all cells to help your body make biochemical conversions.  When people with genetic mutations is MTHFR 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 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.  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.  For a great diagram of more methylation related health problems, check this out:

MTHFR Related Health Problems 

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.

Treatment for MTHFR

Fortunately, you can easily be tested for the MTHFR mutation.  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, [ask your doctor what they’d recommend for you].

Patients who I recommend screen for MTHFR mutations:

  • Pre-conception care: test both man and woman
  • Mental dysfunction including but not limited to depression, anxiety, irritability, mood swings, schizophrenia, bipolar
  • Infants and children of parents with MTHFR mutations
  • Family members related to someone with MTHFR mutations
  • Elevated folate (not processing to active 5-MTHF due to inability to methylate)
  • Elevated homocysteine (due to low active 5-MTHF and methylcobalamin)
  • Elevated s-adenosylhomocysteine (due to low active 5-MTHF and methylcobalamin)
  • Elevated serum cobalamin (due to inability to methylate cyanocobalamin to methylcobalamin)
  • Elevated methylmalonic acid (due to methylcobalamin deficiency)
  • Patients with syndromes: IBS, Chemical sensitivity, Fibromyalgia, Down Syndrome, Chronic fatigue syndrome
  • Neurological disorders: Multiple sclerosis, Autism, Alzheimer’s, Epilepsy, Parkinson’s to name a few
  • Cancer: family history of cancer or undergoing cancer treatment
  • Cervical dysplasia
  • Infertility
  • Cardiovascular risk: family history of strokes, embolisms, heart attacks, clots, essential hypertension
  • Birth defects: cleft palate, tetralogy of Fallot, spinal bifida, midline defects
  • Drug sensitivities: methotrexate, anti-epileptics, nitrous oxide, anesthesia