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MTHFR: Homo, Hetero, Huh?


So you got your genetic test results back and are confused as to what all these complicated-sounding scientific words mean. Homozygous, heterozygous, compound, oh my! Then there's C677T and A1298C. It can be a bit overwhelming, but have no fear! This article will break it down for you in a way that's simple to understand.


There are two main types of MTHFR gene variants: C677T and A1298C. If you test positive for either of these gene variants, you could be heterozygous, homozygous, or compound.


Heterozygous

If your test results come back as being heterozygous for either the C677T or A1298C gene variant, that means that you carry one copy of that variant for the MTHFR gene. For instance, if you are heterozygous for the C677T variant, that means that you carry one copy of the C677T variant for the MTHFR gene. The same would be true for the A1298C variant.


If you are heterozygous for one of these variants, that means that you may experience some symptoms typical of having this mutation, but these symptoms will more than likely be on the milder end of the spectrum. It's still advisable to follow the MTHFR protocol, including removing folic acid from your diet and taking a methylated B vitamin. Your body's ability to detox will be more impaired than if you did not have an MTHFR variant, but will likely not be as severe as if you tested homozygous. Many people with this type of mutation are not aware of having it until doing genetic testing prior to having children. That is not to say that no symptoms can be present with a heterozygous mutation, including recurrent miscarriage or infertility.


Homozygous

If you're homozygous for either the C677T or A1298C variant, that means that you carry two copies of that variant for the MTHFR gene. For instance, if you are homozygous for the A1298C variant, then you carry two A1298C variants for the MTHFR gene. The same would be true for the C677T variant.


If you are homozygous for one of these genetic variants, that means that your body's ability to perform methylation and detox is severely impaired. You are at risk for dangerously high homocysteine levels and will have a higher likelihood of fitting the stereotypical symptom profile of someone with the MTHFR mutation. Many people with this type of mutation have mysterious health issues or even a health crisis that eventually leads to this diagnosis. I fall under this category. If you are homozygous for one of these variants, it's very important to do a lifestyle overhaul, including removing folic acid from your diet and switching to a methylated B vitamin. Browse this blog for ideas on how to live in a way that supports your genetics through gentle detox.


Compound

If you have a compound test result, you can either be compound heterozygous or compound homozygous. Compound heterozygous would mean that you carry one copy of both MTHFR variants (C677T and A1298C). Compound homozygous would mean that you carry two copies of both of these variants. A compound heterozygous result would be less severe and more common than a compound homozygous result. However, being compound heterozygous is still very serious and must be addressed. A compound homozygous test result, on the other hand, is the most complicated and health-compromising combination of MTHFR variants that you could have. If that's you or your child, you are on the right track. Please make an appointment with a functional medicine doctor and utilize the tools on this website to learn how to live in a more health-supporting way, specific to your genes.


Have you gotten genetic testing for the MTHFR gene? Which category do you fall under? Tell us about it!

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