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MTHFR and emotional eating, MTHFR and addictive tendencies
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MTHFR and emotional eating, MTHFR and addictive tendencies
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Understanding MTHFR C677T Nomenclature and Terminology

 

    • 677 is the marker for this  MTHFR gene. C and T are the possible base pairs.

    • The official genetics labeling of this gene is Rs1801133.

    • The C andT stand for the nucleotide bases you could have. C = cytosine, T = thymine. Essentially “C677T” means At location 677 there is typically a cytosine (C) but there is actually thymine (T).

    • The “wild-type” or typical form of this gene is C677C. This has a cytosine on both copies.

    • You have two possible copies of the MTHFR C677T gene – one from each parent.

    • Two wild-type copies = typical genetics. No polymorphism. (C677C)

    • One wild-type and one altered copy = heterozygous MTHFR mutation. (C677T)

    • Two altered  copies = homozygous MTHFR mutation. (this is sometimes just written as C677T homozygous and sometimes as 677TT. Occasionally I see T677T.)

    • The C677T polymorphism results in an amino acid substitution in the final protein of the MTHFR enzyme. This is an ala222-to-val (A222V) substitution. This means in the MTHFR enzyme that the gene manufactures, there is supposed to be an alanine, but instead, we see a valine.
    • This mutation changes the enzyme significantly enough to see a reduction in function.

    • This substitution happens in the part of the enzyme that is presumed to be the catalytic region.

The biggest difference that we know of between the C677T and the A1298C mutation is the level of enzyme compromise. Because this particular polymorphism is associated with a higher level of enzyme compromise, it seems to have more serious effects, but logically that is likely due to the level of compromise.

It is difficult to say if there is a significant difference independent of the degree to which it slows down the enzyme. Of course, more research might reveal something, but at this time the degree of compromise in the enzyme activity seems to be the strongest determinant of how much you are affected.

I have seen every kind of article claiming that A1298C mutations have more tendency towards neurotransmitter imbalance than C677T, Also, that C677T mutations are more likely to lead to high homocysteine. But as far as I can tell, this started with someone making some kind of conclusion, and then the rest of the internet echoing that same conclusion back to them without bothering to actually do the research.

As far as the research I have seen, the thing that matters is how compromised your MTHFR enzyme is, in combination with how much active folate you're getting. As more research is completed this idea might be refined, revised, or even overturned completely, but for now, this is it.

Of course, someone might have a compelling argument why I'm wrong and honestly, I would love to hear it, and even more, I"d love to see the research!

It's kind of fascinating, actually, that we speak with such conviction about things like level of compromise, when in reality there are very few studies, and those studies don't  agree with each other. The three that were used for the ranges in this article are linked below. You will note that the difference between a 36% activity and a 60% activity is almost a factor of two, and yet between two different studies, the range was that broad. So obviously, the research has a long way to go.

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The standard Lorem Ipsum passage, used since the 1500s

Sed ut perspiciatis unde omnis iste natus error sit voluptatem accusantium doloremque laudantium, totam rem aperiam, eaque ipsa quae ab illo inventore veritatis et quasi architecto beatae vitae dicta sunt explicabo. Nemo enim ipsam voluptatem quia voluptas sit aspernatur aut odit aut fugit, sed quia consequuntur magni dolores eos qui ratione voluptatem sequi nesciunt. Neque porro quisquam est, qui dolorem ipsum quia dolor sit amet, consectetur, adipisci velit, sed quia non numquam eius modi tempora incidunt ut labore et dolore magnam aliquam quaerat voluptatem. Ut enim ad minima veniam, quis nostrum exercitationem ullam corporis suscipit laboriosam, nisi ut aliquid ex ea commodi consequatur? Quis autem vel eum iure reprehenderit qui in ea voluptate velit esse quam nihil molestiae consequatur, vel illum qui dolorem eum fugiat quo voluptas nulla pariatur?”

FAQ

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