Review: 'Through the Shadowlands’ describes Julie Rehmeyer's ME/CFS Odyssey
I should note at the outset that this review is based on an audio version of the galleys and the epilogue from the finished work. Julie Rehmeyer sent me the final version as a PDF, but for some reason my text to voice software (Kurzweil) had issues with it. I understand that it is...
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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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    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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    ...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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