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アイテム
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Construction and Expression of Ryanodine Receptor Mutants Relevant to Malignant Hyperthermia Patients in Japan
https://showa.repo.nii.ac.jp/records/621
https://showa.repo.nii.ac.jp/records/6212ba27f96-1e1b-4ee0-aa8e-c3687043e97d
名前 / ファイル | ライセンス | アクション |
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S26_27.pdf (1.0 MB)
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Item type | 学内発行雑誌 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2015-12-16 | |||||
タイトル | ||||||
タイトル | Construction and Expression of Ryanodine Receptor Mutants Relevant to Malignant Hyperthermia Patients in Japan | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ | departmental bulletin paper | |||||
著者 |
NAKANO, Masahide
× NAKANO, Masahide× OYAMADA, Hideto× YAMAZAWA, Toshiko× MURAYAMA, Takashi× NANBA, Hokuto× IIJIMA, Kentaro× OGUCHI, Katsuji |
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書誌情報 |
The Showa University journal of medical sciences 巻 26, 号 1, p. 27-38, 発行日 2014-03 |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disorder triggered by exposure to commonly used volatile anesthetics. Pharmacological and genetic analyses implicated the type 1 of ryanodine receptor (RyR1) /Ca2+ release channel as the main candidate gene for causing MH. Genetic diagnosis of MH was proposed to replace conventional methods using biopsied muscle samples that are painful for patients and require skillful diagnosticians to interpret. However, more than 250 RyR1 gene variants have now been reported in MH-susceptible patients, although most have yet to be associated with functional abnormalities using exogenous constructs of these mutants expressed in living cells. To directly compare the pharmacological characteristics of some of the MH-related RyR1 mutants, we have established doxycycline -inducible cell lines expressing two of the unconfirmed rabbit RyR1 mutants, Q156K or R534H (corresponding to the Q155K or R533H mutations in human RyR1 reported in MH patients in Japan) and a confirmed mutant, R164C RyR1 (corresponding to the R163C mutation in human). The caffeine sensitivity of Q156K-expressing cells was remarkably enhanced compared to wild-type RyR1 and similarly to previously reported levels for R164C-expressing cells, while that of the R534H mutants was not different from wild-type cells. The resting cytosolic Ca2+ concentrations of cell lines expressing Q156K or R164C were much higher than those expressing R534H or wild-type RyR1. These results indicated that the RyR1 gene mutation causing the Q156K phenotype (Q155K in human) is potentially susceptible to MH, and that screening for this mutation could be useful for the noninvasive genetic diagnosis of MH in humans. | |||||
DOI | ||||||
関連識別子 | 10.15369/sujms.26.27 | |||||
出版者 | ||||||
出版者 | Showa University Society | |||||
ISSN | ||||||
収録物識別子 | 0915-6380 | |||||
著者版フラグ | ||||||
出版タイプ | VoR |