Hi, Just jumping into the discussion with this link to what 23andme has to say about MTHFR. I'm not discounting the possibility of a mutation causing a problem. However, I do want to point out that the initial internet hits for MTHFR aren't coming from Mayo, merck, Cleveland Clinic etc but from less mainstream sites. 23andme has delved into the research and states that people can have a mutation (and in some ethnicities they are common) but not have any health problems related to it. It all sounds rather complicated and difficult to figure out....


Our Take On The MTHFR Gene

This is a pretty technical link...but the paper shows MRI results of those with MTHFR mutations. Discussed also is brain shrinkage.

Common folate gene variant, MTHFR C677T, is associated with brain structure in two independent cohorts of people with mild cognitive impairment

While it is true that the "lay" internet has picked up on the MTHFR SNPs... there are scientific papers out there that back up the importance of treating those with MTHFR errors to prevent brain and cardiovascular diseases. I recall reading a Merck site over a decade ago when they published their papers on MTHFR mutations. Times are very different now, with many non technical sites discussing this now.

We are very lucky in that methylB12 and methylfolate are available OTC at relatively low cost to help with this problem.

The Merck company tried to sequester methylfolate for several years as an RX only product. They removed it from OTC sellers, but that did not last. It is now available again, OTC. The Merck company still holds the patent on methylfolate however.

The competition of folic acid with methylfolate in vivo however is still not clarified yet.

The bits of science that I understand in the paper that mrsD has linked look good to me.

More generally, there are large numbers of subjects in the study cohorts and the authors have considered and eliminated possible confounders (eg, inheritance of apoE4, which is a risk factor for AD).

All in all, I think that this is an impressive piece of work.

I found it interesting that a number of the links in the 23andme statement are studies that actually show significant correlation between MTHFR mutations and cancer, heart disease, etc. I've also seen studies that indicate its not the mutation thats causing it - it is low folate or high homocysteine levels (but that is caused by the mutation).

I have the A1298C mutation, which isn't the worst. I also had a fairly acute onset of SFN symptoms - going on 3 years ago now. After going on a supplement routine to address the mutation, the SFN has not progressed, and has gotten somewhat better. I can't say for sure that the mutation caused the SFN, but I have felt better with the supplements, so will continue to take them. The cost of the supplements does add up over time, but I'm fortunate enough that it is not a huge financial burden to me.