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What is MTHFR Mutation?

I recently attended a lecture at a local conference given by a colleague Dr. Ben Lynch ND.  The subject of his talk was MTHFR.  This acronym stands for methylenetetrahydrofolate reductase.  It is an enzyme in the methlyation cycle that converts 5,10-methylene THF into 5-methyl THF.  It is basically involved in converting to the most active form of folate in the body.

It has been shown that there are individuals with genetic defects of this particular enzyme, which does not allow for the conversion to active folate and as such, they may suffer from a host of metabolic and physiological challenges.

The genetic mutations happen on a particular chromosome (chromosome 1) at positions 677 or 1298 (or both) along the gene sequence.  With this gene mutation, this particular enzyme malfunctions and we cannot carry out the process of methylation in our bodies properly.  Some conditions that have been linked to this genetic defect in MTHFR include:

  • Autism/ADHD
  • Addictions – to drugs and alcohol
  • Schizophrenia/Bipolar
  • Depression – post menopausal women
  • Multiple Sclerosis/Fibromyalgia/Chronic Fatigue Syndrome
  • Alzheimer’s/Parkinson’s
  • Miscarriage
  • Pre-eclampsia
  • Blood clots/Strokes
  • Atherosclerosis/low HDL
  • Type 1 Diabetes
  • Cancer- certain forms

This is a very humbling list of potential connections due to MTHFR mutations.  Can you test for this genetic mutation – answer YES.  There are some specialized laboratories in the US that liaise with medical professionals and can provide proper analysis via a blood test.  If you are concerned about this issue, please ask your own medical professional and/or naturopathic doctor.

If you do have the genetic mutation on this enzyme, what kinds of things may help? I would like to bring to your attention the MaxMethyl product from AOR.  This formula has both folate and methylcobalamin (B12) , in combination with vitamin B6 and TMG, to assist with the methylation cycle and to help make up for the enzymatic deficiencies due to the MTHFR mutation.

At the end of the day, optimum health and anti aging medicine rely heavily on our abilities to methylate properly.


Galway, J.G. Metabolism at a Glance. 2nd Ed. 1999. P.54.



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