MTHFR mutations are just starting to be recognized as an issue and so more and more doctors are testing, but what happens if your doctor tells you that you’re homozygous for MTHFR C677T? They might as well be speaking Greek! So here’s the skinny on what that really means. Also here’s a post about MTHFR mutation basic in general.
MTHFR C677T Terminology Basics (or as basic as we’re going to get with genetics).
The simplest level of information here is just the plain genetics. Here are some quick factoids to get us started:
- MTHFR is the short name for the genes that code for the enzyme that changes folic acid to the active form that your body uses (the long name is methylfolate reductace).
- 677 is the marker for one particular MTHFR gene.
- The official genetics labeling of this gene is Rs1801133. Sigh.
- You get one copy of this gene from your mother and one from your father, so there are two possible copies that can be either “normal” or “mutant”
- If you inherited one good copy and one bad copy that’s called “heterozygous C677T”
- If you inherited two bad copies (one from each parent) that’s called “homozygous C677T”
- C…T stand for the bases that you actually have. C = cytosine, T = thymine. Bases are essentially the letters that spell out your genetic code. There are four of them commonly (C, T, A and G).
- When this gene is “normal” it looks like MTHFR C677C.
- Heterozygous mutations are MTHFR C677T because there is one normal C and one abnormal T. Also occasionally written 677CT.
- Homozygous C677T can also be written as T677T (because there are two abnormal copies with T instead of C). Occasionally you’ll also see it written 677TT
Phew! So the take-away there is MTHFR C677T means you have at least one bad copy of this gene, and if it’s called homozygous, or T677T then you have two bad copies.
How Much of a Problem Is This?
This can be a significant problem If you don’t have a good diet or you don’t take supplements. If you get lots of dark green leafy veggies, legumes and other food sources of natural folate – see this post – then you’re probably already getting good methylfolate. If your diet isn’t up to scratch, then supplementation can be useful and here’s a whole post about that.
Heterozygous MTHFR C677T have about 65% normal MTHFR activity (so 35% compromise) and homozygous MTHFR C677T (T677T) have about 30% normal activity (so 70% compromise). Normal activity refers to the way your body activates your folic acid so that it can be used, so compromise usually looks like a functional folate deficiency.
What Are The Health Risks of C677T Mutation?
According to SNPedia, which compiles research on genetics, C677T mutants have been shown in at least one research study to have an increased risk for:
- Midline defects such as:
- Cleft lip
- Cleft palate
- Neural tube defects
- Facial asymmetries
- Cancers including:
- Head and neck
- Cardiac-related issues including:
- Thrombosis (increased tendency to clot inappropriately)
- High homocysteine levels (a heart risk)
- Pre-eclampsia (dangerous high blood pressure in pregnancy)
- Vascular dementia
- Fertility issues including:
- Multiple pregnancy loss
- Low sperm count
- Birth defects such as down syndrome
- Neurological issues including:
- Alzheimer’s dementia
- Mood and psychological issues including:
You’ll notice that this is quite a list, and it can be a little daunting to think about when you’re just learning about this.
What Do You Do About This?
Compromise with the MTHFR C677T gene can have severe consequences so it’s important to work on getting good sources of natural folate, which is generally useable by mutants, or 5-MTHF (5-methyltetrahydrofolate) which is already methylated so the genetic compromise doesn’t matter. As discussed in this article, I feel supplementation should be started slowly because for many mutants who haven’t had active forms of folate very much in their lives it feels really strange when those active forms start showing up and there is a whole lot of adjusting by your body. This activated folate is used by your body to run enzyme pathways, to aid in some parts of normal metabolism, to help your body detoxify and even to methylate your DNA. If it isn’t there then your body does what it can, but what it can’t do starts to pile up. Any time you start supplementation then your body starts digging in that pile to clear up high priority items. This is exactly what we want, but if you start with high doses of a supplement then it’s a little like drinking from the firehose. Kind of out of control and not very pleasant.
A great way to start if you’re unsure, is with a folate-rich diet. I love this image because it kind of covers what we’re looking for. Hint – think dark greens and beans. 🙂
Can Mutants Become “Normal”?
If you’re a mutant (like me) then you’ll always be a mutant, but it doesn’t have to matter. Essentially as long as you’re getting enough of the active form of folate then the mutation doesn’t have to matter. If you aren’t, then it matters a lot.
The bottom line is MTHFR C677T mutations don’t have to mean anything at all as long as you supplement and have a good diet (here’s an article about a folate-rich diet for MTHFR mutants) I always suggest taking a little more care with yourself too. There are known health risks for things like clotting, fertility and cancers so it makes sense to take some precautions. Eat your fiber, do your exercises, get your sleep and generally treat yourself with high regard – shouldn’t we all anyway?