Reply To: Positive for two copies of the MTHFR A1298C variant (homozygote)

#2367 Reply


I found out 2 months ago that I am homo A1298C. My brother told me in 2008 that he was hetero A1298C, and when I looked on the internet for information then, all I could find then was that A1298C was insignificant and homo C677T was the only mutation of concern. That might be why your doctor thinks homo A1298C is not a concern – because that’s a reflection of the medical literature. A1298C is still much of an unknown, although there is more information out there now. I think it’s because our symptoms are more subtle – more in the vein of mental/emotional and detox issues. Nothing as dramatic as the clotting and miscarriage that is more prominent with C677T. And no prescriptions for pharma to profit from.

Dr. Ben does have some articles,forum answers, and podcasts addressing homo A1298C. Do some searching on this website; there’s a lot of resources here. Chances are you may have to educate your doctor or self-treat if you want optimal health.

With A1298C, homocysteine levels don’t raise as dramatically as with C677T, but there might be some elevation. Ideal homocysteine is 6.3. But methylation involves much more than homocysteine levels, and more than just adding supplements. We don’t detox well, so it’s important to avoid anything that increases the methylation burden. You should be taking the active form of folate L-5-MTHF (commercially branded known as Metafolin), and you need the active form of B12 called methylcobalamin. Folic acid is worse than useless, because your body can’t metabolize it. Cyanocobalamin and hydroxycobalamin are useless. With A1298Cs, the methylcobalamin may be more important than the folate. Those are the starter supplements. Other cofactors are needed as well.

Spina bifida, autism, dementia, depression – all can be related to MTHFR. To prevent spina bifida, you need both active folate (not folic acid) and methylcobalamin. Folate and B12 deficiencies both play a role in neural tube defects. I had tongue-tie, thyroglossal duct cyst, & misshapen mitral valve – all neural tube defects.

For someone with MTHFR, a vegan lifestyle is about the worst choice you could make. The malformations in your babies is evidence of that. You can’t get everything you’re missing from supplements and vegetables, fruits, and grains. With your low B12, you might also have celiac disease or non-celiac gluten sensitivity. People with those conditions don’t absorb B12 well.