. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol. 2010 Oct;9(10):986-94. PubMed.


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  1. I think it will be found that aquaporin 3 will be the item of interest (1).

    Aquaporin 3 is found in "normal skeletal myofibres" (2).

    I suspect it will be found that the problem is not a mutation, but something interfering with the normal proper function of the aqp3 channels.

    Aquaporin 3 is, in addition to being a water channel, also an arsenic transporter.

    Arsenic has been implicated in Alzheimer's in at least a few instances. For example, this statement appears in Reference 3 below:

    "Arsenic can induce apoptosis in cortical neurons of rats. This process is based on the activation of JNK3 and p38 MAPK by arsenic...[which] can activate p38 MAPK and JNK3...."

    And the title of the last paper speaks for itself: “Arsenic exposure may be a risk factor for Alzheimer's disease.”


    . Localization of the human gene for aquaporin 3 (AQP3) to chromosome 9, region p21-->p12, using fluorescent in situ hybridization. Cytogenet Cell Genet. 1996;72(4):303-5. PubMed.

    . Expression of aquaporin 3 and its localization in normal skeletal myofibres. Histochem J. 2002 Jun-Jul;34(6-7):331-7. PubMed.

    . Serum zinc is decreased in Alzheimer's disease and serum arsenic correlates positively with cognitive ability. Biometals. 2010 Feb;23(1):173-9. PubMed.

    . Arsenic exposure may be a risk factor for Alzheimer's disease. J Neuropsychiatry Clin Neurosci. 2008 Fall;20(4):501. PubMed.

    View all comments by P.F. Jennings

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