Severe ME Day of Understanding and Remembrance: Aug. 8, 2017
Determined to paper the Internet with articles about ME, Jody Smith brings some additional focus to Severe Myalgic Encephalomyelitis Day of Understanding and Remembrance on Aug. 8, 2017 ...
Discuss the article on the Forums.

GAMT and Creatine

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

  1. Tunguska

    Tunguska Senior Member

    Messages:
    505
    Likes:
    481
    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

    Messages:
    1,268
    Likes:
    2,650
    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.
     
    Tunguska likes this.
  3. Valentijn

    Valentijn Senior Member

    Messages:
    14,281
    Likes:
    45,814
    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.
     
    Sea and Tunguska like this.
  4. Tunguska

    Tunguska Senior Member

    Messages:
    505
    Likes:
    481
    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...
     
    Valentijn likes this.
  5. Tunguska

    Tunguska Senior Member

    Messages:
    505
    Likes:
    481
    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

    Messages:
    14,281
    Likes:
    45,814
    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.
     
    Tunguska likes this.
  7. Sea

    Sea Senior Member

    Messages:
    1,268
    Likes:
    2,650
    NSW Australia
    Last edited: Jun 3, 2014
    Valentijn likes this.
  8. Tunguska

    Tunguska Senior Member

    Messages:
    505
    Likes:
    481
    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

    Messages:
    1,202
    Likes:
    700
    Arizona, USA
    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.
     

See more popular forum discussions.

Share This Page