Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells

    August 2023 in “ ˜The œjournal of pharmacology and experimental therapeutics/˜The œJournal of pharmacology and experimental therapeutics ”
    Jian Gao, Conor McClenaghan, Kenneth A. Matreyek, Dorothy K. Grange, Colin G. Nichols
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    TLDR Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
    Researchers developed a rapid analysis pipeline to study the effects of Cantú syndrome (CS) mutations in KATP channels using HEK 293 cell lines expressing wild type and mutant Kir6.1 and SUR2B. They used thallium-influx and cell membrane potential assays to assess channel activity. Kir6.1 mutations increased sensitivity to the KATP channel activator pinacidil, while SUR2B mutations did not. Both Kir6.1 and SUR2B mutations caused significant hyperpolarization under ambient conditions, indicating gain-of-function. Most SUR2 mutations were inhibited by glibenclamide, but Kir6.1 mutations showed reduced sensitivity to several inhibitors. This pipeline can help in diagnosing CS, discovering drugs, and personalizing treatments.
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