Do I Need to be Tested for the MTHFR Gene?

March 02, 2020

ReferencesTranslational PsychiatryCleveland ClinicCell Science SystemsJr of Alzheimer's DiseaseAging85% SolutionScience Based Medicine,

Want a really good Halloween Buggyman? Dress up as the MTHFR Gene and pretend to cause autism, depression, and just about everything else modern civilization has to offer as wicked diseases. With the advent of the human genome project, we now can measure many many genetic variations in gene activity and function. The question arises, do those variations correlate with meaningful clinical outcomes? I have people coming to me on a weekly basis asking that question. What is the rational science behind this and what should you do? 

It is possible to measure two genes, C677T and A1298T, that are present in some 30-50% of various populations. You get two of each, one from each parent so having a "defective" one means you don't regenerate methyl-folate from folic acid as effectively as some folks. If you have two crummy copies, you regenerate even less. The net effect is that your ability to pass on methyl groups to various chemical processes is reduced. Methyl groups are used to tag DNA as a marker for genetic expression. They are also used to help get rid of cellular garbage by making it water-soluble so you can pee it out. Most notably, you get rid of neurotransmitters more efficiently, ostensibly. Does it matter? 

These type of findings have led to a raft of "associations" between the genetic markers and various psychiatric conditions, from autism to schizophrenia and depression. Depending on how you lean, you can find review articles that support the premise that this is truth orthis is bogus. The problem is is that associations aren't proof, particularly when the "defective" gene is so common that 40% of the population has it. 

Is there reality to any of this? Well yes! If you have really low genetic function of MTHFR genes you can have very high homocysteine levels in your blood. Homocysteine is the carrier of methyl groups that passes the methyl group on to glutathione. There is a strong connection between Alzheimer's and homocysteine. An international consensus statement wasissued in this regardBredesen considers the management of homocysteine as one of the keys to Alzheimer's prevention, in part because it is so easy to take extra B12 and methyl-folate and homocysteine is so easy to lower. His goal is to get your homocysteine down to 7. The average American is roughly around 12 or so, so that is a clear marker. 

But does it cause other diseases? Based on all sorts of anecdotal stories, there are advocates for the MTHFR genes causing all sorts of problems. Dan Purser in his book the85% Solution goes into great detail on the topic. He claims half of America is sick with it and if you just follow his program, you will be much improved.

The voice of modern, traditional medicine isn't there yet. Virtually every standard health site like the Cleveland Clinic and Science Based Medicine put the kabash on MTHFR testing and suggest you settle for taking some extra B vitamins and using homocysteine as your marker of success.

WWW: What will work for me. Goodness. I've read every MTHFR book, listened to on-line leactures, gone to conferences, made up talks about MTHRF and measured it for about 10 years. I've come to the conclusion that we just aren't there yet. I believe it's real with Alzheimer's and heart disease but it is just not worth the anxiety and stress of getting the genetic testing. I tend to reduce the supplement bills of a lot of my clients who have come from other doctors who have plied them them with boxes full of expensive cure-alls. Just measure your homocysteine. If you are above 9, you definitely need to do something. Homocysteine Resist is one of the least expensive, most effective supplments that will do a dandy job of lowering your homocysteine. And I need to get rid of my double helix Halloween outfit. It's just not scary enough.

Pop Quiz

  1. What is MTHFR? Answer: Methylenetetrahydrofolate reductate
  2. Aside from being a spelling-bee question, what is it for? Answer: it is a protein that regenerates methyl folate, a useful "methyl" donor, from simple folic acid. There are two common genetic variants of it that some 30-40% of the population has that result in slower regneration of methyl folate. 
  3. What do you use methyl-folate for? Answer: to pass on methyl groups so that you can tag DNA, ged rid of neurotransmitters that have been used and get rid of gunk, must notably heavy metals.
  4. Are these MTHFR mutations a cause of disease? Answer: Ah, there is the rub. Lots of controversy. Probably likely connected to Alzheimer's and heart disease but just not proven for others. Claimed to be much more important by some authors, but those authors tend to be high on the "quack" lists of watchdog groups.
  5. What can you do? Answer: Simple. Measure your homocysteine. It is a marker of effective production of methylation. Take Homocysteine Resist, a product from Life Extension that has extra methyl-B12 and methyl-folate that both help rev up MTHFR and lower homocysteine. Make it easy. But do take it for the rest of your life. But don't get the MTHFR gene test. Just don't.  Run if someone offers.