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MTHFR - DNA #mthfr #genetic defect (2)The doctors at Functional Endocrinology of Ohio continue to be on the cutting edge of health care. We check for the MTHFR genetic mutation when the case history warrants.  Dr. Ungar is certified in methylation and clinical neutrogenomics by the Seeking Health Educational Institute.  

You may have seen a little bit about MTHFR in health-related news.  So, what exactly is it?

The MTHFR genetic mutation, or polymorphism was first discovered as a result of the human genome project (C677T in 1995 and A1298C in 2001). The gene produces the MTHFR enzyme, and people who have this mutation have a reduced ability to process folic acid/folate into something their body can use. 

MTHFR (Methylenetetrahydrofolate Reductase) is the name of the gene and the enzyme that plays an essential role in processing the folate we eat into a nutrient our bodies can utilize.

People who have MTHFR mutations have an interruption in the “Methylation Pathway." Methylation affects more than 20 different processes in our bodies and when methylation is interrupted, many many essential body functions are disrupted. This can be worked around by taking the nutrient as supplements that cannot be made because of the missing enzyme. In the case of the A1298C mutation, where there should be an Adenine it is switched to Cytosine.

The functions of methylation include:

Turn on and off genes (gene regulation)
Process chemical and toxins (biotransformation)
Build neurotransmitters (dopamine, serotonin, epinephrine)
Process hormones (estrogen)
Build immune cells (T cells, NK cells)
DNA and RNA synthese (Thymine aka 5-methyluracil)
Produce energy (CoQ10, carnitine, ATP)
Produce protective coating on nerves (myelination)

Prevalence - MTHFR mutations are very common. 20-40% of caucasions have one copy of the mutation. 4-14% have two copies. Somes statistics I have seen says 40% of people have one copy, and 30% have two copies. Just because you have the mutation does not mean you will show symptoms or develop conditions associated with MTHFR. Why? Because there are other mutations that could factor into things, and also environmental factors. This is big. People with MTHFR have a reduced ability to eliminate toxins and heavy metals, so the cleaner their environment, the better. This also explains why two people can have the same mutation and not be affected equally.

Folate is essential for cell growth and reproduction, the breakdown and utilization of proteins, the formation of nucleic acids, red blood cell maturation, and a variety of CNS reactions. Both folic acid and dihydrofolate are not biologically active forms of folate, but are essentially pro-drugs, and must undergo enzymatic transformation to L-methylfolate in order to be used by cells, and unlike other forms of folate, L-methylfolate readily crosses the blood-brain barrier for use in the CNS. It is impossible to get L-methylfolate from food. One has to get L-methylfolate through supplementation.

This is a picture of Dr. Ben Lynch of Seeking Health and I at his latest conference in Arizona.

According to Dr. Lynch:

Possible symptoms associated with A1298C MTHFR mutations

  • hypertension
  • delayed speech
  • muscle pain
  • insomnia
  • irritable bowel syndrome
  • fibromyalgia
  • chronic fatigue syndrome
  • hand tremor
  • memory loss
  • headaches
  • brain fog

Possible signs associated with A1298C MTHFR Mutations

  • elevated ammonia levels
  • decreased dopamine
  • decrease serotonin
  • decreased epinephrine and norepinephrine
  • decreased nitric oxide
  • elevated blood pressure
  • muscle tenderness
  • ulcers
  • pre-eclampsia

Possible conditions associated with A1298C MTHFR mutations

  • fibromyalgia

  • chronic fatigue syndrome

  • autism

  • depression

  • insomnia


  • irritable bowel syndrome

  • inflammatory bowel syndrome

  • erectile dysfunction

  • migraine

  • Raynaud’s

  • cancer

  • Alzheimer’s

  • Parkinson’s

  • recurrent miscarriages

This list of signs, symptoms and conditions continually changes based on research! 

Click here to view a copy of Dr. Ungar's certification.



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