It is easy to check your 23andMe results for the two main MTHFR variants:
Check your 23andMe results for rs1801133 for the MTHFR C677T:
- GG: normal (wildtype)
- AG: one copy of C677T allele (heterozygous), MTHFR efficiency reduced by 40%
- AA: two copies of C677T (homozygous), MTHFR efficiency reduced by 70 – 80%
Check your 23andMe results for rs1801131 for the MTHFR A1298C:
- TT: normal (wildtype)
- GT: one copy of A1298C allele (heterozygous), MTHFR efficiency slightly reduced
- GG: two copies of A1298C (homozygous), MTHFR efficiency reduced
Here is what the MTHFR gene does:
There is a lot of swirl on the internet about MTHFR with people thinking it is the cause of everything under the sun. This seems to have caused a bit of a backlash with doctors claiming that MTHFR variants are completely unimportant.
Let’s take a look at a bit of the science:
The methylation pathway is a central biochemical process that impacts all of our cells. Methylation is the adding and removing of a methyl group (CH3) to amino acids, DNA, and other enzymes or proteins. Methylation turns on and off genes, maintaining and repairing your DNA, as well as altering proteins. It is important in the nervous system in the production and breakdown of neurotransmitters.
The methylation cycle is involved with homocysteine, cholesterol, and other important players in heart disease, and genetic variants in the methylation pathway have been linked to heart disease. Additionally, the pathway is involved in regulating hormones such as estrogen, as well as playing a role in histamine levels.
Genetic variants can change how well a piece of the methylation pathway works. Knowing where you have genetic variations can help you understand what you need to do to get around the slow-downs in the methylation pathway.
MTHFR is a central gene in the methylation cycle; common genetic variants in the coding of this gene affect more than half the population. Specifically, the MTHFR(methylenetetrahydrofolate reductase) gene codes for an enzyme that turns folate (think leafy greens) into the active form, 5-methyltetrahydrofolate, that your body uses. This, along with the active form of vitamin B-12 (methylcobalamin) drives an important portion of the methylation cycle.
The MTHFR genetic variants (C677T and A1298C) have been linked to an increased risk of higher homocysteine, neural tube defects, spina bifida, heart disease, stroke, preeclampsia, miscarriage, and mood disorders. [ref][ref] The variants cause a reduction in folate levels, with the 677TT genotype having the greatest impact.[ref]
Why do some doctors not think MTHFR variants are all that important?
The very extensive research (it’s one of the most researched genes) shows that MTHFR variants are linked to an increased risk for the disorders listed above as well as others.
The increase in risk, while statistically significant, isn’t usually a huge increase in overall risk for most diseases. An exception to this, though, is the extensive number of studies showing a link to an increased risk of cardiovascular disease. A meta-study that combined other study results showed that the MTHFR 677TT genotype increased the risk of heart disease by 38%.[ref] With heart disease being the number one killer in most countries, a 38% increase in risk is important.
Overall, optimizing your methylation cycle can be important to your overall health (especially heart health), but probably isn’t the smoking gun for every ailment under the sun.
What should you do about an MTHFR mutation? First off, start reading and educate yourself! There is a lot more to the methylation cycle than just the MTHFR gene.
Increasing your intake of folate from foods will help mitigate some of the risks from the MTHFR variant. Foods containing folate include leafy greens, lentils, asparagus, and broccoli. Note that when you are looking at folate content, you need to make sure it isn’t folic acid (synthetic form in processed foods) if you have methylation cycle variations. Here is a good list of food sources of folate.
If you aren’t getting enough folate from foods, you could try a low-dose methyl folate supplement.
Go and get your homocysteine level checked. High homocysteine levels have been linked to an increased risk of heart disease. Methyl folate plus B12 and B6 may help reduce your homocysteine.[ref] In the US, you can order this online without a trip to the doctor through Walk-In Labs or other online testing providers.
Choline can help your body bypass a lack of folate in the methylation cycle. [ref][ref] Good sources of choline include egg yolks, beef liver, and wheat germ. A metabolite of choline, betaine, is actually what is working through the methylation cycle, so food sources of betaine (beets, quinoa, and spinach) are also helpful here.
More to read about methylation cycle variants:
- COMT – Genetic Connections to Neurotransmitter Levels
- MTHFR and Vaccinations
- MTHFR Polymorphisms – Beyond 677
- High Histamine and Methylation (MTHFR variants)
- MTR and MTRR Variants
- MTHFR Breakfast
General MTHFR and Methylation cycle information: