What is MTHFR?

MTHFR is an enzyme that controls the formation of folate or vitamin B9 compounds within the body.
Folate is important for a process called methylation, where by the body donates chemical groups to make other important compounds vital to the body’s health.
The process of methylation for instance, regulates or produces:

  • Stress Hormone Balance
  • Drug Detoxification
  • Brain Chemicals such as dopamine
  • Liver Detoxification
  • Sex Hormone Balance
  • Environmental Toxin Detoxification
  • Cell Growth
  • Growth and Development
  • Genetic expression
  • Immune function and cancer prevention
  • Oxidative stress

This is just to name a few, there are a plethora of processes that methylation effects.
Some people have a genetic defect from one (heterozygous defect) or both (homozygous defect) parents that causes a problem with this enzyme’s production. It may not start presenting or expressing but if it does then you can end up with a multitude of health challenges.
There is a gene abnormality that we, as nutritionists and naturopaths, nick-name MTHFR polymorphism. This makes the MTHFR enzyme work much slower – approximately 80% less effective if you inherit two of these genes. This creates a poor methylator and affects all of the above processes.
The startling thing is 20% of the population have this gene and are poor methylators!
So if you have this gene unknowingly, what kinds of signs are you looking for to prompt you to get it checked?

  • Family history of Neural Tube Defects
  • Recurrent Miscarriages
  • Autism Spectrum Disorder and Family History of
  • Depression
  • Anxiety
  • Other Mood Disorders
  • Venous Thrombosis and Other Clotting Disorders
  • Obesity and Family History of
  • Type II Diabetes and Family History of
  • Cardiovascular Disease and Family History of
  • Global developmental delay
  • Multiple food sensitivities

If you experience any of these conditions, it warrants testing for MTHFR as the treatment for it is effective. The test is a $70 blood test and takes two weeks. Running the test and finding out if you have one or two genes will tell an experienced practitioner what he/she needs to do to correct this genetic issue and avoid all of the above health issues and risk factors.
The treatment involves the application of targeted forms of folate along with other methylating factors.
One thing that needs to be mentioned is that folate is not folic acid, which is added to all our white flour in Australia and is the common form added to supplements. This is a synthetic form of vitamin B9 and is not metabolised properly by a person who has MTHFR. It has earned some controversy as it can build up within the body of people who have this gene and without and cause negative effects. These negative effects need to be researched further but examples include possible cancer risk and cardiovascular disease.
Something to think about if you may have MTHFR and you eat flour products!

Deborah Taylor
[email protected]