This is the second post in my article on MTHFR. If you recall my first one talked about MTHFR’s role in folate deficiency and how that could happen with the fortification of folic acid grains. This time I hope to shed some light on MTHFR’s role in the methylation cycle.

What is methylation?

  • the process of donating methyl groups to make enzymes for the cells to use (more detail if you like the heavy chem/bio stuff)

What does methylation do? Well the short answer is make enzymes which:

  • turning gene’s off and on like switches to make things happen in the body
  • help the body process and get rid of chemicals
  • help the body build neurotransmittors
  • help the body process hormones
  • help the body build immune cells
  • help the body make and repair DNA and RNA
  • make energy for the cells (ATP, carnitine, CoQ10)
  • make protective coverings for our nerves (myelin sheath)
  • help the body make glutathione

So essentially, you need methylation for every cell in the body. Having MTHFR doesn’t mean you don’t do this, it means you do it at a reduced rate if you are folate deficent or have clogged up your folate receptors with folic acid.  No folate=poor methylation.

What does MTHFR do? It’s the gene that is supposed to make an enzyme to activate and convert folic acid into usable methylfolate. There are four steps in that process but in MTHFR, the process is disrupted between step 3 and 4. Taking more folic acid isn’t a solution in this case. It will just make matters worse with all that unconverted folic acid floating around in the blood.

There are two variants on this gene that cause this to occur. There are about a 100 others that are not tested for by labs but knowing that means, even if your testing is negative you might still have an issue.

  • C667T
  • A1298C

You can have one copy or two copies. Two is more problematic.

  • One copy =  heteorzygous = methylation around 60-70%
  • Two copies = homozygous = methylation around 10-20%

Just one copy or any combination of these two are generally thought to reduce that conversion significantly enough to cause deficiency and disrupt the methylation cycle.

Most people can’t make much sense of the methylation charts online without having some background in chemistry or biology but the key to remember is those methylation wheels are spinning slower in folks that have MTHFR variants.  We are not running on a full tank! We are simply lacking the raw materials to do so because the MTHFR gene is producing an enzyme that doesn’t work  well for using folic acid.

The good news is we can speed up the methylation wheels with supplements. We can by pass the inadequate MTHFR enzyme by giving folinic acid or methylfolate. We can avoid folic acid which helps our body use the right forms when we do take them.

There are lots of rec’s online for treating MTHFR and using folate, methylfolate and methylcobalamin as well as methyldonors like TMG.  To date Ben Lynch seems to be leading the charge on information regarding methyation issues and treatment.  I find there is a bit of trial and error to figure out what works best for each child. Remember, go slow with anything you try!