MTHFR Mutations C677T and A1298C: Explained In Plain English

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MTHFR mutations are one of the most well-studied genetic variations that can affect diet and health
More specifically, the variation MTHFR C677T and A1298C.
This video helps to clarify what each of these are, and what they mean for your health.

MTHFR mutations are actually quite common, and researchers suspect there are at least 30 different types.

C677T and A1298C are the most well-studied and tested of the lot.

The number and letter sequence refers to what is known as a single nucleotide polymorphism or SNP.
The letters and numbers describe where these polymorphisms are and what they look like.

While a “normal” MTHFR gene would be C677C (c = cytosine), a mutation or polymorphism has made the gene C677T (t = thymine).
Carriers with a T on the gene may have MTHFR enzymes that are less efficient, hence the issues associated with an MTHFR mutation.

What about the terms heterozygous and homozygous, what do they mean?
In genetics, hetero- and homo- refers to the two letters on the gene (known scientifically as alleles).
Hetero means different, homo means same. To use an obvious example, it's the same if we are talking about heterosexuality or homosexuality.

For C677T the alleles are C and T, which are different and therefore heterozygous.
T677T is a homozygous mutation, as there are two copies of the same mutant allele (T). Annoyingly, this is typically referred to as 'homozygous C677T'.

Yep, now I can see how this can be very confusing.

There is also compound heterozygous, which is when you have one mutant allele on both the 677 and 1298 base positions.
For example, MTHFR C677T + MTHFR A1298C is a compound heterozygous mutation.

Ok so which type of MTHFR mutation is the most harmful?

Heterozygous A1298C is thought to be of minor consequence (if any), while heterozygous C677T may affect folate metabolism by up to 35% at worst.

Homozygous mutations, as well as Compound heterozgous are considered the most severe or “at risk”. Some researchers say homozygous mutations can inhibit MTHFR enyzme function by up to 70%.

This if course can have consequences for folate metabolism and conditions related to it such as folate deficiency and high homocysteine. If you want to learn more about this, as well as the most appropriate diet for you, check out some of my other videos or follow the links in this video's description.

Remember that MTHFR mutations don’t directly make you unwell. But they may cause an exaggerated response to poor diet or lifestyle choices that others can “get away with”.
So use this knowledge as a tool to make better decisions for your health.

If you enjoyed this please give it a thumbs up and a share, and if you'd like to know more about MTHFR mutations simply click the link in the description.

Dietitian: Joe Leech (MSc Nutrition)

[KenDBerryMD]

Great video. If you have chronic fatigue, pain or disease, we need to check you for the MTHFR Mutation...

[rebeccamanners]

Thanks for this, im bessed to have 2 snp of the 1298 and 1 snp of the 677. On to all the good stuff and life style changes now. will check more of your videos. Thank you

[DDBLU]

Thank you for your video. I have the C677T mutation and have researched this a great deal and most everyone says the same but you added some additional info that I've not seen anywhere else and I found it helpful.

[Dndragon]

I have the mutation so I'm glad you are going over then

[rampart]

Do you have any recommendations for best anesthesia for endoscopy/colonoscopy? What is least likely to provoke a fight/flight response and which is least likely to have a lingering (half-life) effect the day(s) following the procedure? Propofol is what I’m being told is the best by my gastro specialist but he said does not know anything about mutations and anesthesia - he said I need to know what I want when I go in to tell the anesthesiologist just prior to procedure.

[kelviannaepperson]

I learned I have a compound heterozygous MTHFR gene mutations it is a cause of Small fiber neuropathy along with vitamin B6 toxicity. I'm on metanx to help the folate

[hillarymcmahan]

Thank you for the clarity on this. So many explanations I've found elsewhere are needlessly confusing.

[autismparentsupport]

thank you for the video! My son has autism and is homozygous for the MTHFR A1298C variant. The C677T variant was not identified. I understand that this is not the most severe gene MTHFR mutation but I am correct in saying that it could still affect his abilty to detox? Would you suggest to supplement methylfolate and methylcobalamin?

[shahnilaasif]

Please advice what can be done of we have a mthfr.mutation gene. And can 5mthfr suppliment will help to do its job correctly???

[DrShelleyMeyer]

Great video! I agree clarity is needed in this area. Thanks for explaining it so well.

[Be-a-Panda]

Thank you so much. This video was simply to the point.

[tundeannadioszegi]

Great summary, I would add that having two different types of heterozygous mutations has the same effect as a homozygous one meaning in both cases the enzyme only functions at 30% efficiency.

Thanks for the video. I really enjoy watching your videos and think that they are very benefical.

[poncho]

Just found out I have both of these . Knew something isn’t right but doctors kept saying I’m healthy

[alec]

Thank you ken, just found your channel, looking forwards to watching the rest of your vids 👍

[jenniferhizzy]

So true that life style can make or break you. Epi-Genetics baby.

[Thefroggang]

So if you're a heterozygous A1298C you could have a mild case, am I understanding this correctly

[MrTmax]

Great info, thank you. Unfortunately, I was tested and have the most dangerous combination. Oof. I have some serious diet changes ahead of me.

[ritaevergreen]

Could having these mutations affect the body’s inability to take antidepressants like lexapro??

[bretthardin]

Thanks for sharing! I'm subscribing! Love the channel.