October 28, 2014


We really have to reconsider what MTHFR testing means, which also means re-evaluating my earlier post on MTHFR and its treatment.    Just to recap, MTHFR is an enzyme in the biochemical pathway to methylate folate (i.e. add a methyl-group- a carbon and 3 hydrogens-  to folic acid); methylfolate then donates its methyl group to vitamin B12 (cobalamin).  The sole purpose of this enzyme is to add this methyl-group.  There are numerous polymorphisms in the MTHFR enzyme, the two most significant being the C677T and  the A1298T.  However, there are A LOT of enzymes in the whole methylation cascade, all with potential SNPs (single nucleotide polymorphisms).   In our/my  nascent understanding of MTHFR mutations, all mutations were assumed to have a deleterious effect on the brain (and body) and were treated with methylfolate as a means to bypass this errant enzyme, with the assumption the under-methylation was the main problem.   However, MTHFR mutations do not necessarily mean methylation problems, as it could certainly be offset by another polymorphism elsewhere in the pathway.   Interestingly, folate is assumed to be a good methylator. The reality, though, is that for every methyl group donated by folate (in the cytoplasm), ten methyl groups are removed from the nucleus, where the effect on the DNA is really felt (thanks to Dr. Albert Mensah for his great insights and help in understanding this!).  Folate essentially exacerbates undermethylation problems and is likely why some people actually get worse when methylfolate (or any folate, including dietary folate like in kale) is added.  It is certainly more complex than this, but the gist of what I’m really saying is that MTHFR status might be important, like in the potential contribution to elevated homocysteine in heart disease, but the the bigger picture has to do with overall methylation status, for which MTHFR mutations are not a direct indicator.

A far better test to assess overall methylation status would be to look at histamine levels in the body, as histamine is cleared from the body through methylation.  High histamine levels roughly equate with under-methylation; low histamine, with over-methylation.  The test for whole blood histamine is fragile and requires special handling in the lab;  fortunately, the Chicago based Direct Health Care Access lab has mastered this process and can educate/coordinate with other labs around the county on this process (http://pyroluriatesting.com).

Methylation status is important to know as it dramatically effects how we think and feel, what are risks are (i.e. depression, anxiety, OCD, anxiety, etc), how we respond to certain interventions, and, most importantly, how we can potentially alter the course of our genetic inheritance to live longer, healthier, happier lives.  After all, it is about wellness in the end.

For more information on methylation (which will also be posted later), I highly recommend the pioneering work of Dr. William Walsh, and in particular his book, Nutrient Power.   He works closely with  Dr. Albert Mensah and Dr. Judith Bowman of  Mensah Medical (www.mensahmedical.com).  Their website is a tremendous wealth of information on biochemical interventions and understanding brain chemistry.