Autism and MTHFR
If you or your autistic child are like me, you just don't deal with autism - you deal with a bunch of different medical conditions. Sometimes these other medical conditions can complicate things for autism, and sometimes they can be contributing factors to the autism.
And the one I'm going to talk about in this post occurs at least 40% of people, and in 70-90% of autistics.
It's a mutation in a gene known as MTHFR. The mutation reduces the effectiveness of an enzyme called methyl-tetrahydrofolate reductase (MTHFR for short) that turns folic acid into its active form, methylfolate (which I'll call folate for short). Folic acid and folate are forms of vitamin B9. So with the mutation, the body can't properly convert folic acid into folate.
Your DNA comes with two copies of every gene (one from each parent). With the MTHFR gene, if one copy is mutated, the body's ability to make folate is reduced by 20-40%, With two mutated copies, it's reduced by 40-70%.
This matters. This matters a lot.
You see, with many vitamins, the body needs to turn the vitamin into it's more active form before it can use it. If something gets in the way of that process, the body can't use the vitamin effectively. The body needs those vitamins. And the body needs folate a lot more than you might think.
Folate does multiple important things in the body. One of them is to help turn vitamins B6 and B12 into their own active forms. Both of these are very important for the body to function properly. I'll get to some of the reasons why in a bit.
Another is that it helps make serotonin, called the happy hormone because it helps regulate mood. As I've talked about before in the Autism Dynamic Duo, vitamin D helps make serotonin too. Vitamin D helps makes the enzyme that makes serotonin, and then folate helps that enzyme function properly. As with vitamin D, low folate means low serotonin. And low serotonin can lead to issues with anxiety, depression, attention and focus.
As a side note, after I came up with the concept of Vitamin D and zinc as the Autism Dynamic Duo, further research has taught me that the Dynamic Duo doesn't work alone. They work along together with other vitamins and minerals to get the job done in the body. In essence, I've discovered that the Dynamic Duo are part of a much larger team.
Another reason all this makes a difference is one of the things vitamin B6 does. B6 helps the body make glutathione, the main antioxidant in the body. So the MTFHR gene mutation means that the body can't make as much glutathione. That means the body can't remove heavy metals and other toxins from the body, and they build up.
Part of making glutathione involves breaking an amino acid called homocysteine. Without B6 in its active form, homocysteine can't be broken down and builds up in the body. High homocysteine increases risk of heart disease, stroke and Alzheimer's.
I'll talk more about glutathione in an upcoming article.
B6 is also involved in hundreds of different reactions in the body, helps makes white blood cells, and is antioxidant and anti-inflammatory, among many other things. B12 helps with cellular metabolism, nerve function, forming red blood cells, and DNA synthesis. It also helps boost energy, improve memory, and prevent heart disease. So the MTHFR mutation has far reaching consequences.
So, how do you find out if you or your child have the MTHFR gene mutation? It can be diagnosed with a genetic test that a doctor can order. And if you have it, you can take supplements with the methylated (active) forms of folate, B6 and B12.
I found out through genetic testing that I have one mutated copy of the MTHFR gene. So I take methylated B vitamins every day. When I don't take them, I get tired and have trouble focusing. Some days I get panicky, sometimes moody. My wife can tell when I haven't taken it.
As with all my recommendations about vitamins and supplements, if you're interested in using them, please talk to your doctor about proper dosage.
Editor's note: Cover image credit to https://www.gallbladderattack.com