There are two primary mutations (scientists believe up to 30 exist) that have been studied and tested so far - C677T and A1298C. My husband has two C677T mutations. If you recall from high school genetics, that means he got one copy from each parent. The C677T mutation has been studied the most and is believed to have the most significant impact on the methylation process. Their methylation is believed to be only 10-20% of what it should be. According to the NIH, in America, about 25% of people who are Hispanic and 10-15% of people who are Caucasian have TWO copies of C677T. Women with two C677T mutations are at increased risk of having a child with a neural tube defect. Women and men with this mutation combo have an increased risk of having high homocysteine levels.
Homocysteine is an amino acid and breakdown product of protein metabolism. High homocysteine causes hardening of the arteries (atherosclerosis), which could eventually result in a heart attack and/or stroke, and (2) blood clots in the veins, referred to as venous thrombosis. For my husband, he has had heart disease since he was born. He has mitral valve prolapse and a bicuspid aortic value, so he is very focused on preventing his heart condition from worsening. He was shocked to find he had very high homocysteine levels (18), which means he's not only at risk of a heart attack but also a stroke.
Both kids and I are compound heterozygous, which means we each have one C667T and one A1298C. Depending on which research study you believe, people with this combination have a decline in methylation of 40-50%. Still significant but it's possible to have this genetic combination and still have normal homocysteine levels. Initial research indicates there is a digestive issue associated with A1298C. But fortunately none of us seem to have that (of course, we all take probiotics, too). But we have a lot of other issues that I believe are tied to the reduced methylation - anxiety, hormone imbalances, hypothyroid, sensory processing disorder, hypotonia (low muscle tone), low ovarian reserve, and dyspraxia.
MTHFR (as well as other metabolic issues) is really still at the infancy stage of being explored by researchers. So far research has been conducted to understand how the MTHFR genes impact the following:
- Tongue and lip ties
- Heart disease
- Alzheimer’s
- Depression
- Recurrent miscarriage
- Asthma
- Prostate cancer
- Bladder cancer
- Multiple Sclerosis-like symptoms
- Autism (98% of children diagnosed with autism have at least one MTHFR allele)
- ADHD
So what do you do if you have one or more MTHFR mutations? The answer is pretty easy yet the execution can be challenging. In short, you need to start taking methylfolate, active vitamin B6 and B12 (instead of folic acid and the crap found in your typical multi-vitamin). I take Thorne Methyl-Guard, but there are many high quality options out there. Neurobiologix makes a good one. We use their cream version with the kids.
That sounds pretty easy, right? And it's a very good start. The real challenge comes from eliminating folic acid from your diet, which your body can't process. Right now, go into your pantry and start checking your foods. If you were like us, you can probably throw away at least two garbage bags full of foods that contain folic acid. Anything that's processed with wheat or corn - bread, cereal, crackers, meal replacement bars, etc. We found there are some organic brands that use unfortified (or less fortified) organic wheat flour. We like Dave's bread and Annie's products if we are going to give the kids processed foods. We also use a lot of gluten-free foods, too. But this was also an opportunity to cut out a lot of processed foods. We never have pasta in our house any more for example, and we don't miss it! Because once we cut out folic acid for 30 days, we realized when we did eat folic acid (like in a restaurant), our throats closed up...just like an allergy. The feeling wasn't worth it.
The other thing you realize once you give up fortified foods is you likely don't get enough potassium in your diet. Contrary to popular belief, eating a banana a day won't cut it. We all noticed we started feeling dizzy, light headed, and even tired. Once we added a potassium supplement to our diets, that went away.
With our son (who has sensory issues), we noticed that he needed an additional supplement to help his body make more glutathione (which children with autism and sensory issues are often lacking). Proper methylation actually uses even more glutathione, which he was already lacking. We added N-acetyl-cysteine (NAC, the precursor to glutathione) to his supplements and wow - what a change! His therapist told me, "It's like night and day."
Last but not least, the other challenge is finding the right dose of methylfolate for you. There are multiple theories out there about dosing. Some believe those with two mutations need a lot of methylfolate and some believe a little goes a long way. Either way, I HIGHLY recommend you start out with a small dose (400 micrograms) and build your way up slowly. Start by just changing your multi-vitamin to one that includes methylfolate instead of folic acid. I use Pure O.N.E multi-vitamin. I give the kids Pure Junior Nutrients. After you have tried that for at least two weeks (a month might be even better), you can add more. But stay at each dosage for at least two weeks (a month is even better) before you add more. It takes your body awhile to adjust to actually methylating properly again. And you can easily over-methylate and find yourself feeling even worse. My husband I both found the 400 micrograms in our multi-vitamin plus an additional 1 mg in our MTHFR supplement was sufficient. For our son, he just gets what is in his multi-vitamin - 200 micrograms (he weighs 40 pounds). Our daughter (65 pounds) takes the multi-vitamin plus the NeuroBiologix Neuro-Immune Stabilizer cream twice a day.
I cannot reiterate this enough - You should NOT try a methylfolate supplement unless you get tested and know you have the MTHFR mutations. It will not only make you feel bad. It can hurt your health as well.
My last little tip is this - if you find out you have one or two MTHFR mutations and begin trying to figure out the right supplement protocol for you, keep a bottle of low-dose Niacin (50-100mg) on hand. Niacin stops methylation. So if you overdose on methyfolate, you can take Niacin and feel better. Although, you should know Niacin opens up your blood vessels and can give you a very hot feeling and turn your skin red temporarily when you take it. It can be freaky, but it's normal and will subside.
I hope that some of you find this helpful. I'm planning to write one more post about my personal health issues and journey. But in the meantime, I'm very happy to answer questions or tell you more about our experiences!
