MTHFR Mutation: Common Link Between Many Disorders


Dr. Preet Kangura, ND

Something that goes by the name methylenetetrahydrofolate reductase (MTHFR) gene mutation might not sound like something the average person would need to worry about.  However, it is now known that 20 – 40% of people have one copy of the MTHFR mutation, and 14 – 30% of people have two copies of MTHFR mutation.  There are multiple forms of this genetic mutation, but two specific variations – C677T and A1298C – have now been shown to lead a vast number of health problems, including:

  • High blood pressure
  • Insomnia
  • Depression, anxiety, and panic disorders
  • Irritable bowel syndrome
  • Thyroid disorders
  • Pulmonary embolisms
  • Fibromyalgia
  • Chronic Fatigue Syndrome
  • Memory loss
  • Alzheimer’s disease
  • Erectile dysfunction
  • Migraines
  • Brain fog/poor concentration

Wow, now that’s a list.  How could a gene mutation lead to so many different ailments?  It comes down to a biochemical process called methylation.  People with a MTHFR mutation, have a greatly decreased ability to perform methylation processes in the body.  Methylation is required for a multitude of molecules to be produced and to be metabolized.  And one specific molecule that requires methylation to work properly for its production is called BH4.  Each turn of the folate cycle, which converts one form of folic acid to another form, produces 1 molecule of BH4.  People with one copy of the MTHFR mutation have a 30% decrease in BH4 production, while people with two copies of the mutation have a 70% decrease.

These numbers are staggering because the BH4 molecule has extremely important functions that cannot be over looked.  BH4 is needed for nitric oxide synthase – which is needed to control blood pressure.  It is also the rate-limiting factor in the neurotransmitters serotonin, dopamine, norepinephrine, GABA, and melatonin – which are important for mood, energy, and sleep.  BH4 is also required for the detoxification of ammonia, which if isn’t detoxified efficiently, becomes a powerful toxin.  The production of the powerful antioxidants, glutathione and co-enzyme Q10, are also very reliant on BH4.  When these two antioxidants are deficient, it drastically reduces the body’s ability to deal with free radicals and their cumulative damage – leading to diseases such as atherosclerosis and cancer.

Testing for the MTHFR mutation is quite easy as it only requires a simple blood test, which can be done at Sage Clinic.  There is no cure since it is a genetic mutation, however, there are a multitude of naturopathic treatment protocols that can be implemented that supplement the body’s methylation processes.  Once such protocols are started, many of the seemingly separate and distinct health problems listed above begin to subside.  If you can relate to at least a few of the MTHFR related health problems, it might very well be worth checking your genes for answers.