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Interesting BHMT and BHMT2 Variations

Discussion in 'Genetic Testing and SNPs' started by Valentijn, Jul 31, 2013.

  1. Valentijn

    Valentijn Activity Level: 3

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    These are the BHMT and BHMT2 SNPs which 23andMe genotypes, and which have research showing them to be relevant to varying extents. The missense mutation is underlined, bolded, and orange.

    For BHMT, faster seems to always be better in the normal scheme of things, and there are a few variations where the rarer genotype or allele is speeding things up a bit. I'm homozygous for the rare version of the missense mutation :alien: :D

    One Yasko SNP is omitted because it's not genotyped by 23andMe, and two others are omitted because there's no free research available showing that they're relevant. Although one is mentioned in paywalled articles, it's not mentioned in the abstracts, which almost always means it was looked at but it wasn't found to be relevant. The fourth Yasko SNP (BHMT-08, rs651852) is reported backwards - from the research it's pretty clear that the rare version is the more beneficial one.

    BHMT
    rsID.........NAME....RISK...ETC
    rs16876512...C4658T..CC...T is protective
    rs651852.....C6457T..CC...T is protective
    rs6875201....A7961G..AA...G is protective
    rs7700970....C8721T..TT
    rs3797546....T1578C..CC
    rs3733890....R239Q...A

    BHMT2
    rsID.........NAME....RISK...ETC
    rs682985.....D54D....CC
    rs625879.....A2010C..C....AA is protective
     
  2. Valentijn

    Valentijn Activity Level: 3

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    So what is BHMT and why is it important?

    The full name of the BHMT gene and the enzyme it creates is betaine-homocysteine S-methyltransferase. It "remethylates" homocysteine by taking a methyl group from betaine and attaching to the homocysteine. That results in methionine, which hooks up with some ATP to form SAMe.

    SAMe is pretty important, so it's not good to have slow BHMT. But BHMT malfunction has never been identified as causing death, etc. One effect of slow BHMT can be elevated homocysteine, but there are other pathways which can compensate for it.

    What should be done for downregulated BHMT? Supplementing SAMe might seem like an obvious choice, but SAMe regulates BHMT functioning - so if SAMe is high, BHMT will take a vacation. An option mentioned by heartfixer.com is to supplement phosphatidylcholine. No idea if or how that works, but I suppose it's worth a try :p

    An alternative might be to make sure the other method of transformation of homocysteine into methionine (via MTR/MTRR) is well-supported. My general understanding is that supplementing B12 might help keep things moving in the right direction.

    If all else fails and your methylation cycle just can't function well enough to produce SAMe itself one way or the other, supplementing methionine (+ methyl groups if needed), or SAMe directly might be the only solution.
     
  3. musicchick581

    musicchick581 Senior Member

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    Thanks for posting. So through MTHFR Support using 23 and me results my BHMT is all -/- except BHMT08 which is +/+. Is this the one that is reported backwards? So +/+ is good??
     
  4. trollo

    trollo Senior Member

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    i suppose Valentjin that for support to BHMT you should use Betaine/TMG
     
  5. Valentijn

    Valentijn Activity Level: 3

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    Does BHMT need to be supported? Two of the Yasko SNPs have no impact, and one has a tiny impact. Seems like a non-issue to me.
     
  6. trollo

    trollo Senior Member

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    "What should be done for downregulated BHMT? Supplementing SAMe might seem like an obvious choice, but SAMe regulates BHMT functioning - so if SAMe is high, BHMT will take a vacation. An option mentioned by heartfixer.com is to supplement phosphatidylcholine. No idea if or how that works, but I suppose it's worth a try :p"

    You wrote it, not me
     
  7. Valentijn

    Valentijn Activity Level: 3

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    It's a reference to heartfixer.

    Additionally, the original question is in regards BHMT-08, which does not have a negative impact as usually reported, whereas others BHMT SNPs can actually have an impact. And in those cases, it's possible that the heartfixer/Yasko/whatever approach is worth a try.
     
    Last edited by a moderator: Aug 8, 2014
    victoriana likes this.
  8. zzz0r

    zzz0r Senior Member

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    @Valentijn I am not sure that BHMT08 mutation is reported as backwards in the research. At least I do not see that in heartifxer or in yasko's interpretations. Could you point that out to me please?
     
  9. Valentijn

    Valentijn Activity Level: 3

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    Probably http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667971/ in the supplementary material. Tiny effect, increased risk of neural tube defects. Most people would think that's a more relevant risk than Yasko's odd fear of lower (normal) homocysteine.
     
  10. zzz0r

    zzz0r Senior Member

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    I can not find it still.
     
  11. Valentijn

    Valentijn Activity Level: 3

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    Did you search via the RS number?
     
  12. zzz0r

    zzz0r Senior Member

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    I just can not find it in the text that you linked. It is only referenced at the end of the text. However if a click on it the information provided are not enough and not for the 08 version
     
  13. Valentijn

    Valentijn Activity Level: 3

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    It's in the supplementary table linked at the end of the article, rs651852. You'll probably need to read the entire article several times to figure out how they're reporting it.

    If you still can't figure it out, feel free to ask Yasko for proof that it causes harm in the way that she claims it does.
     

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