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Interesting ACAT1 and ACAT2 Variations

Discussion in 'Genetic Testing and SNPs' started by Valentijn, Jul 30, 2013.

  1. Valentijn

    Valentijn Activity Level: 3

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    Unfortunately there hasn't been much research into these genes at all, aside from case studies involving the extreme cases. All of the ones listed are missense mutations, though the ACAT2 mutation is common for all variations - probably because the mutation results in one amino acid being replaced by an almost identical amino acid, resulting in little or no change in functionality of the gene.

    There's no research associated with Yasko ACAT1 SNP, hence no reason to believe it has an impact, thus it's not on this list.

    ACAT1
    rsID.........NAME....RISK...ETC
    rs120074142..M1K.....AA...i5002143
    rs120074145..N93S....G....i5002140
    rs120074146..I312T...C....i5002139
    rs120074147..A333P...C....i5002138
    rs120074143..G379V...T....i5002142

    ACAT2
    rsID.........NAME....RISK...ETC
    rs25683......K211R...??
  2. Valentijn

    Valentijn Activity Level: 3

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    So what is ACAT and why is it relevant?

    ACAT stands for Acetyl-CoA acetyltransferase. It's involved in cholesterol synthesis, which is a pretty essential thing to have. It can also feed into the Krebs Cycle, which is also pretty important.

    Serious problems with the gene can result in Beta-ketothiolase deficiency, due to inability to properly process the amino acid isoleucine and lipids (fats). That then results in ketoacidosis and the associated symptoms. The most reliable way to see if there's a problem is via evelated 2-methyl-3-hydroxybutyrate levels in the urine (reported as 3-hydroxybutyric acid on several organic acid urine tests).

    No idea how it's supposedly involved in gut dysbiosis.
    Little Bluestem and SOC like this.

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