2002Human Molecular GeneticsRequires access

Ion channel diseases

Christian A. Hübner

Open publisher page 245 citations

Abstract

Ion channels serve many functions apart from electrical signal transduction: chemical signalling (Ca(2+) as a second messenger), transepithelial transport, regulation of cytoplasmic or vesicular ion concentration and pH, and regulation of cell volume. Therefore, ion channel dysfunction can cause diseases in many tissues. The list of human diseases known to be associated with defects in ion channels has grown considerably during the past years. This review gives a short overview of known channelopathies, and focuses in particular on recent findings and on channelopathies that have significantly advanced our physiological insight.

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What this paper is about

Ion channels serve many functions apart from electrical signal transduction: chemical signalling (Ca(2+) as a second messenger), transepithelial transport, regulation of cytoplasmic or vesicular ion concentration and pH, and regulation of cell volume. Therefore, ion channel dysfunction can cause diseases in many tissues. The list of human diseases known to be associated with defects in ion channels has grown considerably during the past years. This review gives a short overview of known channelopathies, and focuses in particular on recent findings and on channelopathies that have significantly advanced our physiological insight.

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Available abstract

Ion channels serve many functions apart from electrical signal transduction: chemical signalling (Ca(2+) as a second messenger), transepithelial transport, regulation of cytoplasmic or vesicular ion concentration and pH, and regulation of cell volume. Therefore, ion channel dysfunction can cause diseases in many tissues. The list of human diseases known to be associated with defects in ion channels has grown considerably during the past years. This review gives a short overview of known channelopathies, and focuses in particular on recent findings and on channelopathies that have significantly advanced our physiological insight.

Key concepts: Ion channel, Biology, Ion transporter, Signal transduction, Cell biology, Second messenger system, Cytoplasm, Transduction (biophysics)

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