{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:49:41Z","timestamp":1787021381114,"version":"build-2736575974"},"reference-count":55,"publisher":"The Company of Biologists","issue":"6","license":[{"start":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T00:00:00Z","timestamp":1687824000000},"content-version":"vor","delay-in-days":26,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"crossref","award":["JP19ek0109230"],"award-info":[{"award-number":["JP19ek0109230"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"crossref","award":["JP22bm0804005"],"award-info":[{"award-number":["JP22bm0804005"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"crossref"}]},{"name":"NIH","award":["DC017482"],"award-info":[{"award-number":["DC017482"]}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["JP18K07524"],"award-info":[{"award-number":["JP18K07524"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["JP22K07493"],"award-info":[{"award-number":["JP22K07493"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100005865","name":"Mochida Memorial Foundation for Medical and Pharmaceutical Research","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005865","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Hypokalemic periodic paralysis (HypoPP) is a rare genetic disease associated with mutations in CACNA1S or SCN4A encoding the voltage-gated Ca2+ channel Cav1.1 or the voltage-gated Na+ channel Nav1.4, respectively. Most HypoPP-associated missense changes occur at the arginine residues within the voltage-sensing domain (VSD) of these channels. It is established that such mutations destroy the hydrophobic seal that separates external fluid and the internal cytosolic crevices, resulting in the generation of aberrant leak currents called gating pore currents. Presently, the gating pore currents are thought to underlie HypoPP. Here, based on HEK293T cells and by using the Sleeping Beauty transposon system, we generated HypoPP-model cell lines that co-express the mouse inward-rectifier K+ channel (mKir2.1) and HypoPP2-associated Nav1.4 channel. Whole-cell patch-clamp measurements confirmed that mKir2.1 successfully hyperpolarizes the membrane potential to levels comparable to those of myofibers, and that some Nav1.4 variants induce notable proton-based gating pore currents. Importantly, we succeeded in fluorometrically measuring the gating pore currents in these variants by using a ratiometric pH indicator. Our optical method provides a potential in vitro platform for high-throughput drug screening, not only for HypoPP but also for other channelopathies caused by VSD mutations.<\/jats:p>","DOI":"10.1242\/dmm.049704","type":"journal-article","created":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T04:11:33Z","timestamp":1683173493000},"source":"Crossref","is-referenced-by-count":6,"title":["Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells"],"prefix":"10.1242","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1004-8537","authenticated-orcid":false,"given":"Tomoya","family":"Kubota","sequence":"first","affiliation":[{"name":"Osaka University Graduate School of Medicine 1 Department of Clinical Laboratory and Biomedical Sciences, Division of Health Sciences , , Suita, Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4264-3023","authenticated-orcid":false,"given":"Satoe","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Feinberg School of Medicine, Northwestern University 2 Department of Otolaryngology - Head and Neck Surgery , , Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Risa","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Osaka University Graduate School of Medicine 1 Department of Clinical Laboratory and Biomedical Sciences, Division of Health Sciences , , Suita, Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruka","family":"Sato","sequence":"additional","affiliation":[{"name":"Osaka University Graduate School of Medicine 1 Department of Clinical Laboratory and Biomedical Sciences, Division of Health Sciences , , Suita, Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aya","family":"Miyanooto","sequence":"additional","affiliation":[{"name":"Osaka University Graduate School of Medicine 1 Department of Clinical Laboratory and Biomedical Sciences, Division of Health Sciences , , Suita, Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reina","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Osaka University Graduate School of Medicine 1 Department of Clinical Laboratory and Biomedical Sciences, Division of Health Sciences , , Suita, Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5267-2771","authenticated-orcid":false,"given":"Kosuke","family":"Yamauchi","sequence":"additional","affiliation":[{"name":"Osaka University Graduate School of Medicine 1 Department of Clinical Laboratory and Biomedical Sciences, Division of Health Sciences , , Suita, Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4440-2277","authenticated-orcid":false,"given":"Kazuaki","family":"Homma","sequence":"additional","affiliation":[{"name":"Feinberg School of Medicine, Northwestern University 2 Department of Otolaryngology - Head and Neck Surgery , , Chicago, IL 60611, USA"},{"name":"The Hugh Knowles Center for Clinical and Basic Science in Hearing and Its Disorders, Northwestern University 3 , Evanston, IL 60208 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masanori P.","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Osaka University Graduate School of Medicine 1 Department of Clinical Laboratory and Biomedical Sciences, Division of Health Sciences , , Suita, Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2023,6,27]]},"reference":[{"key":"2023062708462987300_DMM049704C1","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1038\/nrm2376","article-title":"How membrane proteins sense voltage","volume":"9","author":"Bezanilla","year":"2008","journal-title":"Nat. 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Physiol."},{"key":"2023062708462987300_DMM049704C7","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1007\/s004399900101","article-title":"Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM","volume":"105","author":"Friend","year":"1999","journal-title":"Hum. Genet."},{"key":"2023062708462987300_DMM049704C8","doi-asserted-by":"publisher","first-page":"e2112666118","DOI":"10.1073\/pnas.2112666118","article-title":"Autism-associated mutations in KV7 channels induce gating pore current","volume":"118","author":"Gamal El-Din","year":"2021","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2023062708462987300_DMM049704C9","doi-asserted-by":"publisher","first-page":"19250","DOI":"10.1073\/pnas.1217990109","article-title":"Gating pore currents and the resting state of Nav1.4 voltage sensor domains","volume":"109","author":"Gosselin-Badaroudine","year":"2012","journal-title":"Proc. Natl Acad. Sci. 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Treatment Opt. Neurol."},{"key":"2023062708462987300_DMM049704C14","doi-asserted-by":"publisher","first-page":"9549","DOI":"10.1073\/pnas.97.17.9549","article-title":"Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current","volume":"97","author":"Jurkat-Rott","year":"2000","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"2023062708462987300_DMM049704C15","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1038\/NCOMMS1302","article-title":"Engineering biosynthetic excitable tissues from unexcitable cells for electrophysiological and cell therapy studies","volume":"2","author":"Kirkton","year":"2011","journal-title":"Nat. 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Pharmacol."},{"key":"2023062708462987300_DMM049704C25","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1085\/jgp.201411304","article-title":"Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy","volume":"145","author":"Moreau","year":"2015","journal-title":"J. Gen. Physiol."},{"key":"2023062708462987300_DMM049704C26","doi-asserted-by":"publisher","first-page":"13804","DOI":"10.1038\/S41598-018-31772-0","article-title":"A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy","volume":"8","author":"Moreau","year":"2018","journal-title":"Sci. Rep."},{"key":"2023062708462987300_DMM049704C27","doi-asserted-by":"publisher","first-page":"13132","DOI":"10.1038\/NCOMMS13132","article-title":"Engineering prokaryotic channels for control of mammalian tissue excitability","volume":"7","author":"Nguyen","year":"2016","journal-title":"Nat. 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