Friday Factoids Catch-Up: MTHFR: The Missing Genetic Link To Myriad Health Issues

As a doctoral psychology intern I have noticed that many clients are being ordered to have genetic testing to assist the physician to determine the proper diagnosis as well as what medication may be more appropriate.  It has been relatively recently that research has been initiated on the MTHFR gene, as well as the enzyme it produces, and the effects caused by its malfunction.  MTHFR stands for MethyleneTetraHydroFolate Reductase, and its acronym is used interchangeably to denote either the gene or the enzyme it produces.  The gene is found on the short arms (there are 2- 1 each from the mother and father) of Chromosome 1.  The gene is made up of 20,373 base pairs, and the MTHFR enzyme produced by the MTHFR gene helps to produce pyrimidines, which are the building blocks of DNA nucleotides.


When the MTHFR gene is mutated, the enzyme it produces is not entirely correct.  These mutations tend to be very small and minor; however, they can create a variety of health problems and issues.  For the enzyme to work properly it has to be perfect since even the smallest mutation of the gene sequence can produce severe chronic health effects.  0.000098% is the threshold for mutation, or just 1 mistake in the 20,373 steps of the MTHFR gene code.


The most common mutations are found at positions 677 and 1298 on the MTHFR gene, with the mutation being capable of affecting one, the other, or both positions.  It should be understood that MTHFR gene mutations can cause absolutely no symptoms at all, or they can cause severe, irreversible issues like Down’s syndrome, pulmonary embolisms, and Parkinson’s.  While research is ongoing in an attempt to determine exactly which conditions are caused by or attributable to mutations of the MTHFR gene sequence, it has been determined that there are quite a few medical conditions and syndromes that are related to mutations in the MTHFR gene sequence.  A partial list:


  • Autism
  • Addiction
  • Schizophrenia
  • Chronic Fatigue Syndrome
  • Esophageal Squamous cell carcinoma
  • Acute Lymphoblastic Leukemia
  • Spina Bifida
  • Congenital heart defects
  • Post-menopausal breast cancer
  • Alzheimer’s
  • Epilepsy
  • Type 1 Diabetes
  • Depression and Anxiety


While this list is not all inclusive, it does reveal the depth of the importance of testing to determine if MTHFR mutations have occurred, the particular location of the mutation, and what treatment protocols should be considered with regard to the expressed health issue.  For more complete and in-depth info, please go to for the latest research on MTHFR and its associated effects on health.


Lynch, B., MD. (2012, January 25). MTHFR Mutation. Retrieved June 12, 2017, from


Teresa King
PMHC Intern


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