I am getting asked about this quite a bit currently as it is becoming one of those trendy things to look for in alternative circles. I’m not saying it’s not important, but you need to know if you have functional issues, not just gene mutations.


MTHFR: A Primer and Cautions

I have long been aware of the trend in MTHFR gene mutation-seeking currently going on and have expressed my worries about this previously. I worry that people are genetically testing willy-nilly and then getting anxious about what they find and introducing complex supplement protocols to address the SNPs found. (By the way if MTHFR and methylation sound like double-Dutch to you, don’t worry: read part 1 below as it’s a good primer on the subject for you!)

My advice, when contacted by such people – worried and confused most often! – is to remember that just because you have an SNP gene mutation does not mean you have the related condition. And the same goes for MTHFR mutations that affect methylation. I know it’s trendy but this whole gene testing is sometimes causing people more worries than they had before! Obviously, if you find a mutation and you have the functional test done to check eg. methylation and there is indeed a problem there, then by all means do something about it, but do not treat unless you know the actual condition is present. Does that make sense?

That’s why I offer both types of test:  Methylation Gene test and Methylation Function test. You can see more about those and purchase them on the Tests Overview page here. And you can see my Gene Tests page, where I have put a very simple test that covers most of the really key SNPs, including methylation.

Personally, I go for the functional test more because if the function is out, you already know you are likely to be one of the almost 50% of the population who has a gene mutation! If you have the gene test, it shows you have a mutation but you still then have to check the function to know if the genes have been triggered, if you see what I mean. I must stress this is not my field but that approach seems to make most sense to me anyway.

Anyway, I was pleased to see an excellent 2-part article recently making this very point about MTHFR and blanket methylation treatments. The overriding impression given is, as one of the commenters beautifully puts it, that ‘we are all snowflakes’. I love that. It refers, of course, to the fact that one treatment will not fit all and our bodies are complex mazes we need to find our way around. Ooh, mixing methaphors nicely there!

The other main point that comes out strongly is that diet and environmental changes can help an awful lot and sometimes the simplest approaches work best.

Anyway, have a read of part 1:


and part 2:

Mutants R Us: We all have gene mutations

Some interesting points to think about anyway if this is something you are interested in.

Incidentally, to make it clear, when I was revising and updating the Gluten Plan last year, I did quite a lot of research into methylation and believe it is an important area for us TGFers. I have put a couple of sections explaining methylation and the importance of it to us and why, plus a suggested protocol to start you off if the functional test comes back positive. It’s somewhere to start at least for you. It’s on the ‘simpler approach’ end of the scale, but, from the few of you who have contacted me, it seems to be not sparking problems so that’s pleasing!

Meantime, here is some useful info on methylation defects and testing from Doctor’s Data – I recommend the test they refer to here.

There is also a really useful video – quite technical – from Dr Lynch below.