Our Newly Ill Face Their First Holiday Season with ME/CFS
Don't look now! The holiday season is on its way. I've lived through decades of them with ME/CFS. So have many of you in our chronically ill community. That's beyond sad for all of us. But at least we have some idea what we're contending with, and have learned our ways of handling...
Discuss the article on the Forums.

SNC5A common mutation, Voltage Gated Sodium channel Nav1.5

Discussion in 'General ME/CFS Discussion' started by pattismith, Oct 21, 2018.

  1. pattismith

    pattismith Senior Member

    Messages:
    1,694
    Likes:
    2,659
    I am heterozygote carrier of rs1805124, which is sometimes associated to cardiac arrythmia and some other cardiac deffects (which I don't have yet to my knowledge).

    This sodium channel mutation is not known to be associated with any other pathology, but another mutation in this gene is already linked to IBS, and Nav1.5 are not only in cardiac myocytes, they seems to be also present in the brain.

    This mutation produces a gain of function of the channel.

    Ion channels functions are indirectely involved in our syndrome, and polymorphisms of these channels are likely to have some impact in our clinical outcome, so more investigations on it is warranted.

    Note: One of the mutations found in hypokalemia periodic paralysis, a genetic channelopathy, is on the SCN4A gene (Nav1.4).




    upload_2018-10-21_15-47-41.png
     

See more popular forum discussions.

Share This Page