Genetic Influences in Health: the MTHFR Gene

Genetics are playing a more integral role in both and Conventional and Naturopathic Therapies.  SNPs, or Single Nucleotide Polymorphisms, is the study of genetic mutations, which vary from person to person.  Through assessing a person’s unique genetic picture, it is possible to understand aspects of treatment that were rather mysterious previously.  A thorough genetic assessment can tell us which chronic diseases are more likely to develop and therefore which preventive measures are most important.   There is now testing to determine which anti-depressant, anti-anxiety and other psychotropic medications will cause the least side effects for a patient.  Also, for the purposes of this article, assessment of the MTHFR gene can tell us how efficiently a person:

  • manufactures neurotransmitters
  • detoxifies chemical pollutants and hormones
  • produces energy at the cellular level
  • builds red and white blood cells
  • runs thyroid function
  • repairs DNA
  • whole host of other health-determining issues

Following the Naturopathic mantra of “treating the cause”, I am increasingly drawn to genetics as a way of understanding disease on the most fundamental of levels.

The MTHFR gene codes for the body’s ability to “methylate” folic acid in order to convert it to folate, which then acts as co-factor in multiple biochemical reactions as listed above.  It was first studied in the context of cardiovascular disease, then in women with recurring miscarriages and infertility and finally, now, in mood disorders and other neurological issues.  The MTHFR gene is composed of two different enzymes, for which, genetically speaking, we each have a copy from Mom and a copy from Dad.  For each enzyme of the gene, we can have:

  • two normal copies = homozygous normal, full function of the enzyme
  • one normal copy and one mutated copy = heterozygous mutation, 40% function of the enzyme
  • two mutated copies = homozygous mutation, little-to-no function of the enzyme

There are many people (about 50% of the population) with one heterozygous mutation at one of the enzyme genes.  Less common are people with homozygous mutations at one enzyme gene or heterozygous mutations at both enzyme genes.  Generally, people with the latter types of mutations are the ones that develop mysterious (from a conventional point of view) health issues such as:

  • Auto-immune disease
  • Thyroid issues
  • Fibromyalgia
  • Chronic Fatigue Syndrome
  • Multiple Chemical Sensitivity
  • IBS
  • Depression
  • Anxiety
  • Autism, ADD and other spectrum disorders

People with one heterozygous mutation often do not experience the above health issues until there is a large amount of stress on the system (exposure to toxins, emotional stress, an injury, etc…).  Because the true cause of the health disorder is never known, conventional treatments for diseases that develop as a result of these mutations have little success and at best can suppress symptoms.

‘But this is genetics’, you might say, ‘how can you “fix” DNA?’.

It’s a good question and an important point that we cannot “fix” genetics.  It is also crucial to remember that it is these unique qualities to our DNA that determine our individuality as human beings.  These types of genetic mutations often produce highly intelligent people that look at the world in new and novel ways.  So, we want to appreciate our unique genetic make-up and work around it when appropriate by using appropriate replacement forms of B vitamins and other co-factors, of which folate plays a large role.

If you would like to be assessed for an MTHFR or another type of mutation, you have a few options.  The 23 & Me analysis is a good value, can be ordered directly from the website and provides a full genetic panel which can then be fed into an internet-based software program that will interpret the raw data.  The MTHFR and COMT (another genetic marker having to do with mood) genes can be tested on their own with an order from a licensed healthcare provider who is willing to think outside the box.  Many companies offering this service are contracted with private insurance companies and out-of-pocket prices are also very affordable.  Once the results are in hand, I recommend bringing them to a Naturopathic Doctor for interpretation and treatment.  For more information, please contact NENH or check out