My MTHFR results are:
A1298C: Homozygous (two mutant copies of this gene) Technically, I'm C1298C.
What does all this mean?
Remember how my TSH was 95 in July? Well, I was right about Armour being my magic pill. My TSH came WAY down, so instead of 60 and 90 mg a day, I am taking 60 mg twice a day.
As for the MTHFR gene mutation I have, let me see if I can put it in terms that are easy to understand.
MTHFR stands for MeThylenetetraHydroFolate Reductase enzyme. This enzyme is super important. Its job is to help your body process amino acids (and our body is made up of amino acids!). When mutations are present, lots of things can go wonky! (This website has a great list of examples: https://melanieavalon.com/mthfr-mutations-methylation/)
Homozygous A1298C is one of the worst mutations.
MTHFR A1298C mutations affect conversion of methylfolate into BH4, or tetrahydrobiopterin. BH4 plays an important role in neurotransmitter production, which is why MTHFR A1298C mutations are often associated with psychological disorders. The particular neurotransmitters affected include serotonin, dopamine, epinephrine, and norepinephrine. MTHFR A1298C mutations may also affect melatonin production, which often leads to sleep disturbances. Additionally, BH4 is important for heart health and deficiency may play a role in the development of cardiovascular disease. (http://www.mthfrtreatment.com/)
- MTHFR is the short name for the genes that code for the enzyme that changes folic acid to the active form that your body uses (the long name is methylfolate reductace).
- 1298 is the marker for one particular MTHFR gene.
- You get one copy of this gene from your mother and one from your father, so there are two possible copies that can be either “normal” or “mutant”
- If you inherited one good copy and one bad copy that’s called “heterozygous A1298C”
- If you inherited two bad copies (one from each parent) that’s called “homozygous A1298C”
- A…C stand for the bases that you actually have. A = adenine C = cytosine. Bases are essentially the letters that spell out your genetic code. There are four of them commonly (C, T, A and G).
- When this gene is “normal”or “wild type” it looks like MTHFR A1298A.
- Heterozygous mutations (one good copy and one bad) are MTHFR A1298C because there is one normal A and one abnormal C Also occasionally written 1298AC.
- Homozygous A1298C (two bad copies) can also be written as C1298C (because there are two abnormal copies with C instead of A). Occasionally you’ll also see it written 1298CC
Homozygous MTHFR A1298C (C1298C) have about 65% normal activity (so 35% compromise). Normal activity refers to the way your body converts folic acid to 5-L-methyltetrahydrafolate (the active form) so that it can be used. Compromise in this case looks like a folate deficiency.
My doctor recommended a supplement to help with this. Once I hear back from her with the exact name, I'll be able to order it.