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GAMT and Creatine

Discussion in 'Genetic Testing and SNPs' started by Tunguska, Jun 2, 2014.

  1. Tunguska

    Tunguska Senior Member

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    Hello,

    Sterling's app pointed out these two SNPs for me (rs55776826 was also in the 10% database for the Java app, but didn't show up in snpedia so hadn't noticed it that way):

    GAMT rs17851582 A AG +/-
    GAMT rs55776826 T TT +/+

    No idea what it was until I read http://ghr.nlm.nih.gov/gene/GAMT:
    So apparently poor GAMT could screw over your natural creatine. Is that correct? Does anyone else have these and looked into them?

    These mutations don't seem too popular:

    https://opensnp.org/snps/rs17851582 - AG 15%
    https://opensnp.org/snps/rs55776826 - TT 2%

    This raises the obvious question, should I try supplementing with creatine??? I've always been wary of sports supplements that aren't simple amino acids or whey.

    This page describes creatine defiency syndromes: http://www.ncbi.nlm.nih.gov/books/NBK3794/ However I have no idea what would constitute an inefficiency in producing creatine vs a clinical deficiency. Has anyone read the sports research?
     
  2. Sea

    Sea Senior Member

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    NSW Australia
    I haven't looked at this at all yet, but I am heterzygous for both those snps. Interesting for me as I also have a very rare snp on the CPT2 gene which can affect fatty acid processing for energy.
     
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  3. Valentijn

    Valentijn Senior Member

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    rs17851582 isn't pathogenic, even when homozygous, according to http://www.ncbi.nlm.nih.gov/pubmed/12468279 . rs55776826 is also marked as "benign", probably based on the full text of http://www.ncbi.nlm.nih.gov/pubmed/15108290 which I don't have access to. The 2nd one is also not a missense mutation, which usually means little or no impact on the gene.
    I had a pretty horrible reaction to creatine. Whole body swelling, somewhat painful. If trying it be very careful and do a small amount first.
     
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  4. Tunguska

    Tunguska Senior Member

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    Thank you. Hope that's accurate (I found the "benign" you mention by searching again; should have checked more of the DBs); would be good news; wasn't too keen on the idea of supplementing creatine for the rest of my life. The 2% and red flag from sterling's app gave the opposite impression. None of this seems particularly reliable!

    Exactly, wary of it because I can do very little exercise at the moment...
     
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  5. Tunguska

    Tunguska Senior Member

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    Just wondering also, could you tell me how you translate rs55776826 to those notations they use (e.g., " c.521G>A (exon 5; 1/14 alleles)")? Or know a resource that explains how?
     
  6. Valentijn

    Valentijn Senior Member

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    dbSNP will usually have it listed somewhere for the SNP. It'll list the location of the SNP on the gene, and/or the location of the relevant amino acid on the protein which the gene creates.

    I wouldn't recommend trying to figure out which SNP the research is talking about - it's a real pain, and usually doesn't involve ones tested by 23andMe.
     
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  7. Sea

    Sea Senior Member

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    Last edited: Jun 3, 2014
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  8. Tunguska

    Tunguska Senior Member

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    Got a pass on that one.

    Can't report any serious disturbances from a bit of creatine; as usual from supplements didn't notice much at all. If anything interesting happens I suppose I'll post here but doesn't look like this is going to be a smoking gun...

    And: Thanks for the replies. As you can probably tell I'm fairly new to this aspect of health.
     
    Last edited: Jun 8, 2014
  9. Critterina

    Critterina Senior Member

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    FWIW, I do NOT have those GAMT mutations, and I HAVE used creatine. Also, my labs occasionally show low creatinine levels (creatinine is the breakdown product of creatine, and low levels are usually associated with a low-protein diet, but not with disease). I had no bad reaction to creatine. I did have a substantial improvement in my athletic performance. I had been doing a route: up one canyon, across a ridge, and down another canyon. It was 5.1 miles and took me 100 minutes (I was counting minutes for a healthy people challenge.). After 2 days of creatine I did it in 88 minutes. After 5 days, I did it in 82 minutes. When you are low in creatine, it does plump up your muscle cells (with fluid), so there may be a slight weight gain, but they work better. My story. Not saying it will be the same for anyone else.
     

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