RHR: functional methylation testing key - mutations are not absolute determiners

a snippet from a longer interview worth having its own page

RHR: Methylation 101

https://chriskresser.com/methylation-101/

Dr. Amy Nett: Well, Chris, I think that's really important because I've heard you say before — and this is so true, so worth repeating again — that genes load the gun, but environment pulls the trigger. Genes give us information in terms of helping us know where to look for potential problems in the methylation cycle and maybe helping us to tailor treatment, but really it's the lifestyle, diet, and disease states that are probably more important in knowing how someone is actually methylating. So we need to consider a patient's internal and external environment in addition to the genetic predisposition to really understand their functional methylation or how they're actually methylating.

Chris Kresser: Yeah, let's drive that home even a little bit more.

Dr. Amy Nett: Yeah!

Chris Kresser: Because as you know, this is a pet peeve of mine, and there are websites out there where you can connect your 23andMe results and they will spit back your methylation genetic profile along with a list of supplements that you should take solely on the basis of the genetic mutations that you have. 

And where you can start to see the limitations of this approach very quickly is that oftentimes with those computerized algorithms one mutation suggests that you would tolerate methyl donors like methylfolate really well, and so they'll list those out next to that mutation, but then another mutation you have further on down suggests that actually you wouldn't tolerate those methyl donors, so it tells you to avoid methyl donors. 

This is just one example and one reason why we cannot rely on the genetic profile alone to tell us what's actually happening in the methylation pathways.

Amy and I have seen numerous cases where somebody has no really significant mutations in MTHFR or other significant methylation-related genes, but when we go and do some functional methylation testing, which we'll come back to in a little bit, they're kind of a disaster. They're having huge problems with methylation. Then on the other hand, we've seen patients who have mutations where you would expect them to be pretty challenged in terms of their methylation, but when we do a functional profile, they're actually methylating really well.