I think we’re all going to scream when the next patient says, ‘I’ve got an MTHFR’, right?!
Congratulations, I want to say, because you would be in much more serious trouble if you didn’t have a copy…
‘Oh, sorry, you mean you have a mutation on at least one allele encoding for the MTHFR enzyme…Oh, I hate to tell you but contrary to popular (online) belief, you’re not special.’
Because the majority of people have at least one mutation on at least one allele – right? In fact, if neither of your copies of your MTHFR gene are affected by mutations, I think you should go straight out and buy a lottery ticket, because you are winner! I know I am being provocative but heck I was one of the first practitioners in Australia to speak to the potential health effects of the most potent MTHFR mutations…and in the 10 or so years since, sadly the impact of ‘methylation madness’ has been a bit like watching a train wreck. It’s time to recalibrate & this story may help.
I’ve been asked to help 3 siblings. They range in age from in their teens to their 30s. As a completely incidental finding several years ago, one son was found to have a homocysteine of 110 umol/L. You heard me right, 110 umol/L. So mum decides to check out the others. Her daughter’s levels are higher again (!) and her other son is affected but to a much lesser extent. Poor mum has been perpetually worried &searching for answers ever since. You see, her children didn’t have any symptoms per se at the time of diagnosis, they really had been ‘healthy kids’ – however, she now knows they are at a grossly elevated risk of many health issues and some preliminary evidence of this is already apparent in the current labs of the 2 most affected siblings.
Both have low BMD for their age, a prematurely declining GFR flagging renal impairment which are all common findings in genuine hyperhomocysteinemia.
Even with high dose nutritional treatment their homocysteine fluctuates between the 50s-70s umol/L.
And her daughter, who understandably just wants to ignore the whole issue in the desperate hope it will go away, is currently taking the combined oral contraceptive which will inflate her already substantial risk of thrombosis and stroke.
So we are working with methylation impairment at it’s worst, using many of the usual suspects of course but in doses that would probably curl your hair and even then we are unlikely to achieve ‘normal’ levels without enforcing dietary methionine restriction. Really makes you rethink all the hyperventilating going on about high-normal homocysteine or patients and practitioners who attribute so much to one SNP on one copy of the MTHFR gene….or any other gene involved in methylation.
Oh, did I mention already? If you had tested the MTHFR genotype in these patients, you would’ve told them to go buy a lottery ticket…the problem isn’t there. And even a full gene profile (not naming any names) couldn’t spot the source of this genuine hyperhomocysteinemia , which is a defective CBS. Just saying…
Are you experiencing Methylation Madness?! A condition that occurs when you’ve been told so many different things about folate and methylation that you’re now confused about how to treat your patients. That’s completely understandable in the current context of conflicting messages. Some people are taking large leaps in interpretation in the context of very patchy & preliminary research. Perhaps things have been made more complicated than necessary.? The Folate Debate is all about getting back to basics – how do the different forms of folate compare, structurally, biologically, therapeutically. What is the consensus about their real niches and contraindications? With a secondary focus on how the different forms compare with regard to mental health, this is a webinar not to miss.