{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T06:10:05Z","timestamp":1767161405453,"version":"build-2238731810"},"reference-count":34,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,2]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Malignant hyperthermia (MH, MIM# 145600) is a complex pharmacogenetic disorder that is manifested in predisposed individuals as a potentially lethal reaction to volatile anesthetics and depolarizing muscle relaxants. Studies of\n CASQ1<\/jats:italic>\n -null mice have shown that\n CASQ1<\/jats:italic>\n , encoding calsequestrin 1, the major Ca\n 2+<\/jats:sup>\n binding protein in the lumen of the sarcoplasmic reticulum, is a candidate gene for MH in mice. The aim of this study was to establish whether the\n CASQ1<\/jats:italic>\n gene is associated with MH in the North American population.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n The entire coding region of\n CASQ1<\/jats:italic>\n in 75 unrelated patients diagnosed by caffeine-halothane contracture test as MH susceptible (MHS) was analyzed by DNA sequencing. Subsequently, three groups of unrelated individuals (130 MHS, 100 MH negative, and 192 normal controls) were genotyped for a variant that was identified by sequencing. Levels of\n CASQ1<\/jats:italic>\n expression in the muscle from unrelated MHS and MH negative individuals were estimated by Western blotting.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Screening of the entire coding sequence of the\n CASQ1<\/jats:italic>\n gene in 75 MHS patients revealed a single variant c.260T > C (p.Met87Thr) in exon 1. This variant is unlikely to be pathogenic, because its allele frequency in the MHS group was not significantly different from that of controls. There was also no difference in calsequestrin 1 protein levels between muscle samples from MHS and controls, including those carrying the p.Met87Thr variant.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n This study revealed a low level of protein coding sequence variability within the human\n CASQ1<\/jats:italic>\n gene, indicating that\n CASQ1<\/jats:italic>\n is not a major MHS locus in the North American population.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1097\/01.anes.0000530185.78660.da","type":"journal-article","created":{"date-parts":[[2018,1,15]],"date-time":"2018-01-15T00:06:20Z","timestamp":1515974780000},"page":"344-349","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":28,"title":["CASQ1 Gene Is an Unlikely Candidate for Malignant Hyperthermia Susceptibility in the North American Population"],"prefix":"10.1097","volume":"118","author":[{"given":"Natalia","family":"Kraeva","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Zvaritch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanda","family":"Frodis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"Sizova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Kraev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.","family":"MacLennan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheila","family":"Riazi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-20250520","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1007\/BF03004695","article-title":"Malignant hyperthermia: Aetiology unknown.","volume":"17","year":"1970","journal-title":"Can Anaesth Soc J"},{"key":"R2-20250520","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/1750-1172-2-21","article-title":"Malignant hyperthermia.","volume":"2","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"R3-20250520","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1016\/j.bbamcr.2010.11.009","article-title":"Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum.","volume":"1813","year":"2011","journal-title":"Biochim Biophys Acta"},{"key":"R4-20250520","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1097\/00000542-199803000-00006","article-title":"The sensitivity and specificity of the caffeine-halothane contracture test: A report from the North American Malignant Hyperthermia Registry. 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