Methylenetetrahydrofolate reductase. MTHFR. I do in fact have a mutation in one of the genes that controls the production of this important enzyme. I am heterozygous for the mutation, which means I have a mutated copy and a normal copy. This is better than being homozygous, or having two mutated copies, but it still means that all of the important functions of that enzyme, which as a collective is called methylation, happens at only 60-70% of capacity in my body.
This is not a rare mutation and it is one of the more studied mutations in the growing field of epigenetics, which basically is the study of how we can control our gene expression. I read that perhaps 10% of the population is homozygous, and this means a great deal more of us are heterozygous. Depending on what other stuff is going on with our genes, this could be a big problem for some people’s health, and a not so big problem for others. Studies are still being done and there is a lot to read out there on the internet, and I’m not going to go into all of it, except what pertains to me.
I the full name is MTHFR677T. It is one of two MTHFR genes that I had tested and thankfully I am negative for the other mutation. So, it means I don’t methylate as well as I should. Methylation is essential for optimal functioning of well, just about everything. One big thing is the processing of toxins, any kind of toxin, including environmental toxins but also all of the byproducts of my normal metabolism. Like, oh, estrogen metabolism. And normal estrogen metabolism depends on methylation. I do not yet have the test results back for all of the hormone metabolites that will tell me which of my hormones are not being processed properly. I would bet estrogen though. Estrogen can be metabolized out of the body through two pathways. One is the “normal” one, and the other one creates issues with breast tissue.
Methylation is also very essential for processing folic acid into folate. All breads, pastas, anything with flour, in the US it’s made with enriched flour. Enriched with folic acid. When your body doesn’t do well at turning folic acid into folate, it creates a whole host of problems, including increased levels of homocystine, which is just bad (I certainly do not have the time to fully explain all of this, but google will tell you if you want to know more). Thankfully I’ve been largely gluten free for a while and that’s important for people with this mutation. The whole B vitamin metabolism thing doesn’t work so great when methylation doesn’t happen like it should. It’s all actually quite complicated but for me, it seems I had a folate deficiency, because when I did my research and chose a supplement formulated to support methylation (which contains methylated folate and a host of other B vitamins) and then I literally took ONE pill, I felt completely different, within hours. I had talked about how lethargic and depressed I was getting around my period, and how the length of time that went on was increasing, seemingly with each cycle, to where there was hardly any time of the month I felt like myself. I couldn’t think, I was scattered, brain fog, and the depression. One particularly shitty day, after I had bought the supplement but hadn’t taken it because I didn’t have my test results back yet, I got tired of it all and said, well, it ain’t gonna hurt me (little did I know that sometimes, just starting to pop methylated folate can mess some people up) and I took a capsule and boom. It was like turning a light switch on. Within a couple of hours, my brain was churning away at 100%, I was full of energy and enthusiasm, and searching for the next task to tackle. It was astonishing really.
I am still feeling quite a bit better but I am not sure I have the proper dosing and I haven’t formulated a long term plan. I don’t have my hormone metabolism results back but I’m collecting more information. I know that I should probably always be on supplements to support my liver as I do not detox as well as some. As I already know but have been struggling with, controlling inflammation is key so I’m adding curcumin and continuing to monitor my diet for inflammatory foods. Basically what I am hoping for is more payoff for all of the work I have been doing. I think it’s taken a lot just to feel as good as I do, and I’ve always thought I should feel better, and frankly have spent too much time berating myself for not doing enough, and blaming myself or my weaknesses for not feeling better or getting as strong as other people seem to be. Screw that. I need a different plan than most people and I’m grateful that I’ve been as tenacious as I have about it. I ordered a 23 and me test and will get my raw data and then send it through Dr. Ben Lynch’s Strategene report system to get a bigger picture of any more mutations that may be affecting me. And some day, I’ll be done spending money on tests and things and maybe I can go on vacation.
If there is one thing I have always wanted to say in this blog, it’s that anyone can do this. If you don’t feel good, and doctor’s can’t help you, then you can help you. If you want to feel good, don’t let anything stop you. Yes I understand I am fortunate to have a good job and despite my debts and complete lack of savings or retirement money at least I have a paycheck that allows me to get these tests. Some people don’t have as much money but you know, find a way. Because most of this still, tests or no tests, comes down to diet and lifestyle, period. Eat healthy veggies and clean protein, avoid processed food, chemicals, drugs and alcohol, get enough sleep, avoid stress. Make choices that take you down the path of health if healthy is what you want to be. I’m super interested in maximizing my health, not just feeling pretty decent for a 48 year old broad. So yea, the stuff I talk about, it isn’t for everyone, but for those who are searching for answers, don’t give up. They are out there, and you are absolutely worth it.