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• W4213065894 abstract "Some missense gain-of-function mutations in the CACNA1C gene, encoding calcium channel CaV1.2, cause a life-threatening form of long QT syndrome (LQTS) named Timothy syndrome with currently no clinically effective therapeutics. Here we report that pharmacological targeting of sigma non-opioid intracellular receptor 1 (SIGMAR1) can restore electrophysiological function in induced pluripotent stem cell (iPSC)-derived cardiomyocytes generated from patients with Timothy syndrome and two common forms of LQTS, type 1 (LQTS1) and type 2 (LQTS2), caused by missense trafficking mutations in potassium channels. Electrophysiological recordings demonstrate that a Food and Drug Administration (FDA)-approved cough suppressant, dextromethorphan, can be used as an agonist of SIGMAR1 to shorten the prolonged action potential in cardiomyocytes from patients with Timothy syndrome and human cellular models of LQTS1 and LQTS2. When tested in vivo, dextromethorphan also normalized the prolonged QT intervals in a mouse model of Timothy syndrome. Overall, our study demonstrates that SIGMAR1 is a potential therapeutic target for Timothy syndrome and possibly other inherited arrhythmias such as LQTS1 and LQTS2. Song and colleagues show that FDA-approved cough suppressant dextromethorphan could be used as an agonist of sigma non-opioid intracellular receptor 1 (SIGMAR1) to normalize the action potential in human cellular models and a mouse model of Timothy syndrome, a congenital disease with no available treatment. The researchers also show that dextromethorphan normalizes the action potential in human cellular models of two additional inherited cardiac arrhythmias: long QT syndrome types 1 and 2, which are caused by mutations in different genes." @default.
• W4213065894 created "2022-02-24" @default.
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• W4213065894 date "2022-02-17" @default.
• W4213065894 modified "2023-10-15" @default.
• W4213065894 title "Sigma non-opioid receptor 1 is a potential therapeutic target for long QT syndrome" @default.
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• W4213065894 doi "https://doi.org/10.1038/s44161-021-00016-2" @default.
• W4213065894 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36051854" @default.
• W4213065894 hasPublicationYear "2022" @default.
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