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    K Channel Defect

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    Alex Xander
    The document discusses Jervell and Lange-Nielsen Syndrome (JLNS), a recessively inherited disorder characterized by congenital bilateral deafness and cardiac abnormalities including prolonged QT interval and arrhythmia. Mutations in the K+ channel genes KCNQ1 and KCNE1 are found in families with JLNS, and these genes are expressed in the heart and inner ear where they are involved in potassium secretion into the endolymph.

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    K Channel Defect

    Uploaded by

    Alex Xander
    13 views1 page
    The document discusses Jervell and Lange-Nielsen Syndrome (JLNS), a recessively inherited disorder characterized by congenital bilateral deafness and cardiac abnormalities including prolonged QT interval and arrhythmia. Mutations in the K+ channel genes KCNQ1 and KCNE1 are found in families with JLNS, and these genes are expressed in the heart and inner ear where they are involved in potassium secretion into the endolymph.

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    K channel defect

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    The document discusses Jervell and Lange-Nielsen Syndrome (JLNS), a recessively inherited disorder characterized by congenital bilateral deafness and cardiac abnormalities including prolonged QT interval and arrhythmia. Mutations in the K+ channel genes KCNQ1 and KCNE1 are found in families with JLNS, and these genes are expressed in the heart and inner ear where they are involved in potassium secretion into the endolymph.

    Copyright:

    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
    Download as docx, pdf, or txt
    13 views1 page

    K Channel Defect

    Uploaded by

    Alex Xander
    The document discusses Jervell and Lange-Nielsen Syndrome (JLNS), a recessively inherited disorder characterized by congenital bilateral deafness and cardiac abnormalities including prolonged QT interval and arrhythmia. Mutations in the K+ channel genes KCNQ1 and KCNE1 are found in families with JLNS, and these genes are expressed in the heart and inner ear where they are involved in potassium secretion into the endolymph.

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    KCNQ1 and KCNE1

    Defects in two related K+ channel genes occur in Jervell and Lange-


    Nielsen Syndrome (JLNS; see references in OMIM *192500 and
    *176261 at http://www.ncbi.nlm.nih.gov/omim/). This recessively
    inherited disorder is characterized by congenital bilateral deafness
    and by cardiac abnormalities, including a prolonged QT interval and
    arrhythmia that can lead to sudden death. Perhaps the first
    description of a JLNS patient was recorded in 1856 by Meissner,
    involving a deaf girl who was called before the director of her
    school for a reprimand and fell dead. One can imagine the director
    trying to explain the circumstances to the parents, but the parents
    were not surprised: they had lost two other deaf children under
    similar circumstances of stress. The genetic basis, the deafness,
    and the arrhythmia are all apparent in this incident.
    In some families with JLNS, mutations were found in the K+ channel
    gene KCNQ1 (also known as KvLQT1). KCNQ1 is expressed in the
    heart, and mutations in this gene had previously been found in
    families with long QT syndrome without deafness. In the inner ear,
    the KCNQ1 channel is expressed in the apical surface of the
    marginal cells of the stria vascularis and in similar cells of the
    vestibular system (Shen and Marcus 1998 , and references therein).
    The channel is tonically active and is thought to pass K + into the
    endolymph.
    Associated with KCNQ1 is a smaller subunit encoded
    by KCNE1 (a.k.a. minK, IsK), that does not form part of the
    conducting pore (Kaczmarek and Blumenthal 1997
    ). Mutations in KCNE1 have recently been found in other JLNS
    families that do not have a defect in KNCQ1. Moreover, a null
    mutation in the mouse ortholog of KCNE1 causes a loss of
    K+ secretion by the stria vascularis of the cochlea and related cells
    of the vestibular epithelium, eventual death of the hair cells, and
    concomitant loss of both hearing and balance (Vetter et al. 1996).
    Thus, the cells that generate the high K + concentration in
    endolymph require KCNQ1 and KCNE1 to perform that function.

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