What is the MTHFR gene?
It may sound strange, but basically stands for Methylenetetrahydrofolate Reductase. The MTHFR gene is needed for the production of MTHFR. A very important enzyme needed for:
- The conversion of folic acid to its usable form to enter cellular pathways
- Methylation: an important detoxification process in the body and the MTHFR gene influences the enzyme that increases this detox
- Converting homocysteine to methionine. This is important for protein production
- Keeping homocysteine low and this is important as a preventative measure against cardiovascular disease
- Production of glutathione, a very important antioxidant for liver function and energy production
- The production of SAMe- important for mental well being and sleep
So if you have an MTHFR gene mutation, your bodies ability to apply these fundamental processes may be reduced because your ability to produce the enzyme important for these functions is reduced.
“Individuals with low activity of the MTHFR enzyme may present with elevated homocysteine levels, which have been associated with inflammation and heart disease, birth defects, difficult pregnancies, and potentially an impaired ability to detoxify.” Dr Wentz
Clinically, we often see the MTHFR gene mutated in those suffering with:
- Chronic Fatigue Syndrome
- Mental health issues such as depression, anxiety, OCD, panic
- Chemical and food sensitivities
- Sleep disturbance
- Autism Spectrum Disorders
- Cardiovascular Disease
- Recurrent miscarriage and neural tube defects
- Digestive inflammation
The MTHFR gene can be affected by many polymorphisms. However, it is the C677T and A1298C that are the most clinically relevant. They are classed as either homozygous (two copies of the gene are affected) or heterozygous (one copy of the gene is affected). Disease risk and symptom manifestation is generally higher in those with a homozygous mutation.
The test is easy and inexpensive. Testing is offered on the Sunshine Coast and Australia Wide. For our international clients we are able to assist in organising this in your country.