KCNE3 mutation V17M identified in a patient with lone atrial fibrillation: Cell Physiol Biochem

Anne-Kristine Meinild-Lundby, L. S. Ravn, J. H. Svendsen, S. Hauns, Søren-Peter Olesen, Nicole Schmitt

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    Abstrakt

    BACKGROUND: Atrial fibrillation (AF) is the most common cardiac rhythm disorder with a lifetime risk for development of 25% for people aged 40 or older. In this study we aim for the functional assessment of a mutation in KCNE3 identified in a proband with early-onset lone AF. METHODS: Screening of genomic DNA from the proband led to identification of a KCNE3 V17M missense mutation. We heterologously expressed the accessory channel subunit in Xenopus laevis oocytes together with its known interacting potassium channel alpha-subunits. Further, we applied RT-PCR on human total RNA from left and right atria and ventricle. RESULTS: Electrophysiological recordings revealed an increased activity of Kv4.3/KCNE3 and Kv11.1/KCNE3 generated currents by the mutation, thereby conferring susceptibility of mutation carriers to faster cardiac action potential repolarization and thus vulnerability to re-entrant wavelets in the atria and thereby AF. CONCLUSION: Here we report a novel mutation in KCNE3 identified in a proband with early-onset lone AF possibly leading to gain-of-function of several cardiac currents. We suggest abnormalities in the KCNE3 gene as a potential genetic risk factor for initiation and/or maintenance of AF.
    OriginalsprogEngelsk
    TidsskriftCellular Physiology and Biochemistry
    Vol/bind21
    Udgave nummer1-3
    Sider (fra-til)47-54
    Antal sider8
    ISSN1015-8987
    DOI
    StatusUdgivet - 2008

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