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Know anything about this rare missense mutation?

Discussion in 'Genetic Testing and SNPs' started by SOC, Jan 18, 2014.

  1. SOC

    SOC Moderator and Senior Member

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    I'm homozygous for this rare (0.01%) missense mutation -- SNP: rs3730071, gene: ADCY6

    According to @Valentijn 's amazing rare allele program it's related to formation of cyclic adenosine monophosphate (whatever that is when it's at home :confused:). As far as I can figure out at the moment (which is not far at all, I'm afraid), it's somehow related to ATP.

    According to Wikipedia:
    o_O :bang-head:

    Translation?
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  2. alex3619

    alex3619 Senior Member

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    cAMP is something I have blogged about. Its best not to think of it as ATP, but as a high energy messenger molecule, one of two super hormones. If there is insufficient it will lead to a dominance of Ca++ as an intracellular messenger. Raising cAMP is in part why I take resveratrol. In several of my models restoring cAMP should lead to an improvement in symptoms. That is not proven however, and messing about with cAMP does have risks ... it is a hormone (technically an intracellular messenger) after all.

    Poor cAMP might lead to both sleep and breathing issues, as well as a tendency to insulin resistance.

    I will have another look into this later today.

    On rare occasions though a mutation is actually about increasing the impact of a protein, not decreasing it, in which case there might be too much cAMP.
  3. SOC

    SOC Moderator and Senior Member

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    Thanks, Alex. :) I do have sleep problems and a tendency to insulin resistance.

    I agree that I don't know the "direction" of the mutation -- whether it is increasing or decreasing the impact of the protein -- so I am very hesitant to do anything to try to alter the effect until I'm far more confident about what's going on.
  4. alex3619

    alex3619 Senior Member

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    Just speaking generally, but in many cases if a mutation causes a slight problem other feedback loops kick in and regulate everything properly anyway. Its only major mutations, or situations in which other regulatory pathways are fubar, that a minor mutation (in terms of functional impact) might cause a problem. That is the impact of the mutation is only revealed with another problem stresses the system.
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  5. Valentijn

    Valentijn Activity Level: 3

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