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Mthfr ala222aval heterozygous

Discussion in 'Detox: Methylation; B12; Glutathione; Chelation' started by knackers323, Jan 24, 2014.

  1. knackers323

    knackers323 Senior Member

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    Could someone please explain what this means and how it would effect methylation treatment please.
     
  2. Sea

    Sea Senior Member

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    NSW Australia
    It is a single change of a nucleotide (or allele) in the MTHFR gene better known as C677T. C and T are the two options for alleles at position 677 of the gene.

    If the allele is a C the protein it codes for (at position 222 of the amino acid) will be Alanine (Ala). If it is a T the protein will be Valine (Val). Hence its alternative name Ala222Val. Because the allele change affects the protein that is made it is known as a missense mutation

    The MTHFR gene is responsible for making folate usable by the body and this mutation affects the ability to do this. Homozygous C677T reduces this ability to 30%, heterozygous by itself reduces it to around 60% but it can be further reduced if there are other mutations in the gene as well.

    http://en.wikipedia.org/wiki/Methylenetetrahydrofolate_reductase

    Methylation is affected because methyfolate is an integral part of the methylation cycle. A person with this mutation needs more methylfolate. It is still important though to have methylfolate in some balance with B12. I wouldn't take just methylfolate by itself
     
  3. Critterina

    Critterina Senior Member

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    Arizona, USA
    ...in other words, it means you're going to want to supplement with methylfolate.
     
  4. knackers323

    knackers323 Senior Member

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    Thank you guys. What happens if folate and B12 are out of balance?
    These are beginner questions I know but I am new to the whole methylation thing. I've been doing lots of reading but its heavy going with a brain that won't work.
     
  5. Critterina

    Critterina Senior Member

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    There are two basic things that can happen, according to @Freddd, and they are called "paradoxical or doughnut hole folate deficiency" and "methyl trap". I'm not sure I'm convinced of either, but it's a story worth listening to. Search on them or search his posts, and you'll find plenty of material that doesn't need to be reproduced here.
     
  6. Sea

    Sea Senior Member

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    Taking folate without B12 can mask a B12 deficiency. Irreversible neurological damage can be happening but all testing that would usually flag a deficiency (eg red cell size) will be normalised if taking folate. That is not just a theory, it is well recognised in many studies. One of the downfalls of folate fortified foods is that many elderly people (who are a population recognised as often deficient in B12) are not having that deficiency caught early.

    I don't know enough to advise any ratio, I just know it is important to take B12 when taking folate
     

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