Not only is the name confusing but the gene and the enzyme it produces has the same name, and just to add to the confusion with the names a little more, this produces the final form of folate, known as 5-MTHF. This is the active form of folate which is the substrate for the methylation cycle and is found inside every cell.
The MTHFR Gene
When things go wrong with a gene it is called a polymorphism, when testing for gene defects we are looking at single nucleotide polymorphisms, and from now on we will call them SNPs. The SNPs that have been shown to cause problems with the MTHFR gene are:
1. MTHFR C677T
2. MTHFR A1298C
Heterozygous = 1 copy of the gene from either parent
Homozygous = 1 copy of the gene from each parent
MTHFR C677T Heterozygous = 40% loss of function
MTHFR C677T Homozygous = 70% loss of function
MTHFR A1298C Heterozygous = 20% loss of function
MTHFR A1298C Homozygous = between 40% loss of function
5-MTHF levels go down, this is because you are not able to metabolize folate efficiently and you are even less able to metabolize the synthetic form of folate called folic acid, which is the form that is added to foods and many supplements. On a blood test is may actually show that you have high levels of folate but that is in the blood and it does not mean that the cells are able to utilize that folate efficiently.
Depending on which SNP that you have, C677T or A1298C will depend on how much loss of function you have and how low your levels of 5-MHTF may be.
Low levels of 5-MTHF lead to problems with your methylation cycle, this is one of the core processes that occurs in all your cells to help you make biochemical conversions. When people with MTHFR mutations are exposed to toxins, have a poor diet and lifestyle or even take too much folic acid this can lead to some very serious illnesses.
The Methylation process is responsible for
Cellular repair: Synthesis of nucleic acids, production and repair of DNA and mRNA, when things go wrong here it can cause many problems
Detoxification and Neurotransmitter production: Producing serotonin and dopamine, when things go wrong this can lead to anxiety and depression, ADHD and learning difficulties
Healthy immune system function: Formation and maturation of red blood cells, white blood cells and platelet production
What problems can MTHFR cause?
Maybe you’ve have a family history of heart attack or stroke… maybe you’ve suffered through multiple miscarriages. Or maybe you struggle with chronic migraine headaches or irritable bowel syndrome or depression. Perhaps your child or a sibling has autism. What do all these things have in common? Well, these are just some of the conditions linked to a faulty enzyme called MTHFR.
This will then have affects for the following conditions, of course MTHFR is not the only cause and there are many factors involved but if methylation is not working effectively it needs to be addressed
Many labs are now testing for MTHFR and you can ask your naturopath or doctor to do this for you, however MTHFR is not the only SNP that can cause problems with the methylation cycle and should not be treated in isolation so getting a more comprehensive gene test will help to identify other SNPs like MTR, MTRR, CBS, COMT and many more than maybe contributing to your health problems.
If you are having health issues and you have MTHFR it is best to work with a doctor or naturopath experienced in treating MTHFR and the methylation pathway