MTHFR is one of the most popular genes tested for these days. It stands for Methylene Tetra Hydro Folate Reductase. My way of remembering MTHFR is Monday, Tuesday, Holiday, Friday, Rest day.
The two key varieties tested for are MTHFR (677T and MTHFR A1298C) and the results may look like this:
MTHFR C677T Mutation detected Heterogygous or Homozygous
MTHFR A1298C Mutation detected Heterozygous or Homozygous
Heterzygous means 1 copy of a gene from either parent
Homozygous means 1 copy of a gene from both parents
However Mutation is not the right word, in my opinion, and has a connotation that something is wrong with you. The word that should be used is polymorphism or gene expression. Polymorphism is a better word for it means "the presence of genetic variation within a population upon which natural selection can operate" . I strongly believe that mutation should be removed from the wording in the results. Please take into account we are talking about only one gene and sometimes the more you learn about genetics it is very important to put it into perspective and look at the whole picture. At the bottom of this article I have included a picture of our biochemistry so you can see how this gene fits into a millions of chemical processes in our body. Nearly 48 percent of people show a varying degree of MTHFR and it is purely to me part of the amazing jigsaw of your whole biochemical genetic makeup. This is my second article on this subject as more information has been exposed to me and in doing the Genetic Wellness program training I realize that looking at the group of other methylation genes is a more balanced approach than always looks at the individual genetic polymorphins.
The best way to describe or understand this gene is to understand conversions of Folic Acid to Active L- Methylfolate. For the majority of people non MTHFR folic acid is safe and effective but for some with this polymorphism they have a reduced conversion of folic acid to L-Methyfolate. The conversion does occur but at a reduced rate. If you want to know how well your enzyme activity towards active folate works please check with your practitioner.
The simplest way to explain this genetic test is that when we eat folate it has many steps to become the active folate. This enzyme MTHFR effects the last step of this Folate Metabolism process.
Folate is not the same as Folic Acid (Folic Acid is Synthetic and not found in nature)
Folate is required for optimal cellular health
Folate helps in methylation (This is a process by which your body transfers one set of atoms to a set of amino acids)
Folate helps with amino acid metabolism which can effect neurotransmittors and hormones and enzymes
Folate helps in formation of RBC, WBC and platelets
Folate is essential for detoxification of homocysteines The ideal homocysteine level is under 8 from a naturopathic perspective.
If you have what is known as a MTHFR polymorphism it can be reflective of reducing this process then you may be prone to:
- Increased toxicity
- Low Stress Tolerance
- Premature ageing
- Memory issues
- Higher homocysteines
- Fertility Issues
- Increased Inflammation
If you have any of these conditions listed below then maybe consider getting this gene tested.
- Anxiety, Memory loss, alcohol sensitivity
- Chronic Fatigue Syndrome, PC05
- Chemical sensitivity, Depression, Fertility issues
- Cardiovascular discore, high homocysteine
- Blood Clotting, Epilepsy, Multiple Sclerosis
- Bipolar disorder, Neurpathy, recurrent miscarriage
- Thyroid issues, low B12 issues
What does it mean if you have a MTHFR gene polymorphism?
It does NOT mean you have to take methy folate as a medicine in every case but if you do need extra folate of any kind you need it to be given an activated form. You can have folate in green vegies but please do not have folic acid in any supplement or food additive form. It is great to see supplement companies now producing more supplements compatible for MTHFR. Hopefully food companies will follow. Here at the clinic we are making sure everyone with an MTHFR has compatible supplements and educated on lifestyle choices. I recommend clients with reduced MTHFR function to reduce and better still cut out gluten, corn and dairy. It is not that the person is allergic to it or coeliac but simply it can affect detoxification pathways, further reduce immune system, energy levels and moods and emotions.
Really for optimal health it is ideal for a person with this issue to be aware of all toxic exposure e.g. alcohol, smoking, environmental toxins, household toxins, processed foods. Additinonally It is also positive to maintain a healthy weight, eat lots of vegetables, modulate stress responses eat organic where possible. For a client trying to conceive or pregnant I may use a product with methylated folate and methylated B12. There are some others that will come up with this for a different medicinal reason however the best way to get true folate is in green vegies. I feel in the future more research will evolve in nutrigenomics. Nutrigenomics is the scientific study of the interaction of nutrition and genes, especially with regard to prevention of disease.
For further information email email@example.com
written by Maedy Colenso ND 2016