Molecular basis of inherited calcium channelopathies: Role of mutations in pore-forming subunits

Lynn Mckeown, Philip Robinson, Owen T. Jones

    Research output: Contribution to journalArticlepeer-review

    Abstract

    The pore-forming alpha subunits of voltage-gated calcium channels contain the essential biophysical machinery that underlies calcium influx in response to cell depolarization. In combination with requisite auxiliary subunits, these pore sub-units form calcium channel complexes that are pivotal to the physiology and pharmacology of diverse cells ranging from sperm to neurons. Not surprisingly, mutations in the pore subunits generate diverse pathologies, termed channelopathies, that range from failures in excitation-contraction coupling to night blindness. Over the last decade, major insights into the mechanisms of pathogenesis have been derived from animals showing spontaneous or induced mutations. In parallel, there has been considerable growth in our understanding of the workings of voltage-gated ion channels from a structure-function, regulation and cell biology perspective. Here we document our current understanding of the mutations underlying channelopathies involving the voltage-gated calcium channel alpha subunits in humans and other species. ©2006 CPS and SIMM.
    Original languageEnglish
    Pages (from-to)799-812
    Number of pages13
    JournalActa Pharmacologica Sinica
    Volume27
    Issue number7
    DOIs
    Publication statusPublished - Jul 2006

    Keywords

    • Calcium channels
    • Channelopathies
    • Mutation

    Fingerprint

    Dive into the research topics of 'Molecular basis of inherited calcium channelopathies: Role of mutations in pore-forming subunits'. Together they form a unique fingerprint.

    Cite this