MTHFR

While it is unlikely I’ll ever know why I got breast cancer as such a young age, collecting information on how I can avoid it coming back again is a pastime to which I am ferociously devoted. There is much information to digest, most of it vague or contradictory. There are so many variations of breast cancer and therefore nearly infinite variations on how to prevent recurrence.

One of the things my primary care doctor recommended was to be tested for a genetic mutation commonly called MTHFR. Sign me up, obviously!

The two most common MTHFR gene  mutations are C677T and A1298C. If you are mutated on 1 allele (heterozygous), you may have mild symptoms. If you have mutations on both alleles (homozygous), symptoms can be more severe.

I have a heterozygous mutation on both C677T and A1298C (also referred to as compound heterozygous). This is considered by many doctors to be the worst combination of mutations and puts me at risk for some pretty unfun stuff, some that I’ve probably already struggled with and others a risk for the future.

What do these 2 genes do exactly? This is where it gets complicated but the short story is that MTHFR is an enzyme that is responsible for methylation, a critical process in neurological and cardiac function as well as detoxification, cell repair and a whole laundry list of other super important stuff your body needs to stay alive.

Sleep, anxiety, and other psychological challenges (even Alzheimers) are associated with a mutation on A1298C. This is because the mutation affects the creation of neurotransmitters like dopamine, serotonin, and other stress/coping-related hormones. C677T is more closely associated with susceptibility to cancers and heart disease.

In other words, in the big poker game of life, I got dealt a shitty hand. On the bright side, combating my genetic predisposition to poor health is relatively easy. I simply need to give my body the stuff it lacks but already methylated (since that’s the part my body slacks on). I need to supplement methyl-folate  and methyl B12.

One downside is that methyl-folate can make you feel worse before you feel better. I mistakenly started off with too high of a dose (1000mcg/day) and ended up sleepless and jittery. I went off of the supplements for 6 months and am now re-starting with a very low dose (334mcg/day). I’ll increase my dose up to 5000mcg/day as my body allows. Knowing how I felt on just 1000mcg/day, I may never reach that dose comfortably but that’s okay. I’m also taking B12 as Methylcobalamin, which is a more easily absorbed version.

Being compound heterozygous, I’m likely unable to properly metabolize and detoxify pollutants, medicine, even my own naturally occurring hormones. I’m planning some rigorous detoxification processes but I’ll post more about that later.

It is hard to know where to go for help. Even doctors don’t always have all the information. Alternatively therapies are notoriously under-researched. This seems like a relatively new treatment so we’ll just have to see where it goes. Please share any useful info on MTHFR with me. I’m still learning about this myself.

Further Reading:

https://www.jillcarnahan.com/2014/02/23/health-tips-for-anyone-with-a-mthfr-gene-mutation/

http://www.mthfrtreatment.com/

http://doccarnahan.blogspot.com/2013/05/mthfr-gene-mutation-whats-big-deal.html

https://www.dietvsdisease.org/mthfr-c677t-a1298c-mutation/