MTHFR – say what?
If you've been following my series on investigating my inability to lose weight, you’ll have read about my blood test results last week. (Catch up on the other posts in the series here, here , here , here and here). Well, the other component to those test results was the genetic results…
I knew these results were fine too, as I’d scanned through them when they arrived in the post and didn't see any words like “fault” or “mutation”. Wrong again. That innocuous word “heterozygous” in the results column, does not mean “nothing to see here, move on!”
Introducing MTHFR…
One of the gene sequences they tested for was the gene MTHFR (methyl-tetrahydrofolate reductase). Yep, I'd never heard of it either. There are more than 50 known MTHFR variants, and they seem to only test for a few of these (with 677T and 1298C being the most common). It turns out I am heterozygous for MTHFR 1298C. Heterozygous means I have one affected gene and one normal gene, whereas homozygous would mean both genes are affected. Being heterozygous, it’s quite possible I could have no issues whatsoever, but having looked through the list of symptoms and seeing pulmonary embolisms feature, it’s clear I am affected by this mutation.
Having had two unexplained “random” pulmonary embolisms and none of the risk factors (as I wrote about recently) I am shocked and upset that this was not uncovered before. I had the genetic tests before and didn't see them myself, but was told they were fine. It’s clear to me now that they would only have told me if I has a homozygous result!
The MTHFR enzyme works in a process called the methylation pathway, and basically seems to explain why my B12 (and therefore Iron) are so low, as a mutation means B vitamins aren't processed properly. I'm no scientist, so I highly recommend reading this excellent MTHFR website. The treatment is to take B12 supplements, but in the active form of Methyl B12, and I've also started taking another supplement called “Methyl-Guard Plus” that works with the B12. Luckily iherb sell both, so I was able to get them and start taking them quickly.
Interestingly fortified folic acid or folate foods have a further detrimental effect on this pathway and are to be strictly avoided as you’re not able to process they folic acid. The folic acid then has no where to go, so causes inflammation and increased homocysteine levels. I can’t help wondering how many expectant mothers diligently taking folic acid also have MTHFR mutations and are doing a lot more damage than good with these well intended supplements…
In a few weeks time I'm going to have a repeat of all of the tests (and a few extra) to see how the treatment and supplements have been working. Depending on the results I'm also going to look into having further testing into some of the other 50 known MTHFR variants. After my Pulmonary Embolism experience I want to know as much as I possibly can about my health and genetics, to avoid that ever happening again.
How is this related to my weight?
On the surface, it’s not completely clear – there is just so much going on. But given how many things seem to be linked, the doctor and naturopath seemed to think it likely that this is all related to my weight. If things aren't working properly, it makes sense that my bodies process for fat loss is not efficient either. And now that I have several biochemical reasons as to why I am so frequently tired – perhaps this is also related to my low metabolism? A low metabolism must have a significant bearing on weight loss…
Have you had genetic testing? What did you find out – and what have you done about it since finding out?
