What is MTHFR?
MTHFR stands for methyl-tetrahydrofolate reductase, an enzyme that is responsible for a process called methylation, which takes place in every cell of your body. There are two main genetic variants of MTHFR, called C677T and A1298C which can be associated with many health issues. Having a genetic variant with MTHFR means that your enzyme functions at a reduced capacity.
Methylation is an essential central biochemical process in the body affecting several systems:
- Your utilization of vitamin B12 and folate – important in pregnancy and pre-conception (associated with neural tube defects, an miscarriage)
- Neurotransmitter synthesis (dopamine, serotonin and norepinephrine) – affects mood and addiction (anxiety, depression, bipolar disorder, all types of addiction)
- Regulation of gene expression – Methylation is a process of effectively turning off or turning genes by adding methyl groups to the DNA strands. In very simple terms, wherever there is a methyl group, that gene will be silent, and when the methyl group is removed, the gene will be expressed. The implications of this are enormous, and having an optimally functioning methylation cycle is key to reducing our susceptibility to cardiovascular disease, cancer, neurological diseases and many other conditions.
- Processing of toxic heavy metals
- Hormone activity and hormone detoxification
- Immune system regulation
- Aging in general due to the effect on glutathione production
- Regulation of homocysteine – associated with development of early cardiovascular disease
As you can see, the effects of methylation are wide-spread, and can impact various systems: cardiovascular, mood and nervous system, detoxification, hormone balance, immune system, energy regulation and aging.
Testing for MTHFR
Many of us carry mutations or defects in methylation genes, especially with MTHFR and the good news is that it is quite easy to test for. Currently the most cost effective and simple way to test is through a genomic panel at ’23 and me’ (www.23andme.com). Once your results are in, there is a way to access your raw data in order to view the genetic mutations that you carry. My one caution with this test is to think about the information you may find, and the implications of having this information about your health, and to have some support with interpretation.
When to test for MTHFR?
There are certain cases where I would highly recommend testing for MTHFR, based on personal or family history. Remember it is important to identify this condition to prevent prevent future health issues:
- Preconception (especially if we see some of the issues below in the family) – testing for both partners.
- Mental health issues – anxiety, mood swings, bipolar, depression especially
- Chemical sensitivity
- Chronic fatigue syndrome, fibromyalgia
- Cervical dysplasia (irregular PAP tests)
- Recurrent miscarriage
- Family history of early cardiovascular disease (before age 65) or blood clots
- Addiction (personal history or family history)
- Birth defects – cleft palate, spina bifida, midline defects, tetralogy of Fallot
Treatment for MTHFR
On the positive note, the MTHFR defect can be corrected by supporting the process with the correct forms of nutrients to essentially ‘bypass‘ the faulty enzyme. Nutrients typically required are the methylated versions of folate, called 5-MTHF and vitamin B12 in the form of methylcobalamin. Methylation however, is a more complicated process than just one enzyme, so if we are looking to support your genetics, I highly recommend testing more than the MTHFR gene in order to look at surrounding enzymes and pathways in the methylation cycle. In all cases, supplement dosages are started low and gradually built up.
Correcting methylation defects can have a profound impact on your health, both currently and in the future. It can also greatly improve pregnancy outcome and the health of your children. This is a case where taking the correct action with nutrition and supplemental support can have a tremendous benefit on your genetic expression.