Novel Mutations in C-terminal Channel Region of the Ryanodine Receptor in Malignant Hyperthermia Patients
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概要
- 論文の詳細を見る
Malignant hyperthermia (MH) is a pharmacogenetical complication of general anesthesia resulting from abnormal Ca2+-induced Ca2+ release (CICR) via the type 1 ryanodine receptor (RyR1) in skeletal muscles. In this study, we analyzed the genomic DNAs prepared for determination of all the 106 exons of the RyR1 gene from blood samples donated by two MH patients with extremely high CICR rates in their biopsied skeletal muscles and a clear history of MH incidence. Two novel point mutations were found in the exons 96 and 101 with alterations in the coded amino acids within the C-terminal channel region, i.e., Pro4668 to Ser and Leu4838 to Val. The latter mutation was found in both MH patients. Rabbit RyR1 channels carrying corresponding mutations were expressed in CHO cells for functional assay. It was found that the L to V but not the P to S mutation of the RyR1 resulted in enhanced Ca2+ release activity. These results indicate that the L4838V mutation is responsible for the MH incidence. The L4838V mutation is unique because it is the mutation first found within a hydrophobic transmembrane segment of the channel region and should provide further information on the function of the RyR1 as well as for genetic diagnosis of MH.
- 社団法人 日本薬理学会の論文
- 2002-02-01
著者
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OGUCHI KATSUJI
Department of Pharmacology, School of Medicine, Showa University
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HANAOKA KAZUO
Department of Anesthesiology and Pain Relief Center, The University of Tokyo Hospital
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Oguchi Katsuji
Department Of Pharmacology School Of Medicine Showa University
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Endo Makoto
Saitama Medical School
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SAITOH Naoto
Department of Aerospace Engineering, Tokyo metropolitan Institute of Technology
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KAWANA YOKO
Department of Urology, Kawatetsu Chiba Hospital
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Saitoh Naoto
Department Of Aerospace Engineering Tokyo Metropolitan Institute Of Technology
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Saitoh Naoto
Departments Of Pharmacology Graduate School Of Medicine The University Of Tokyo
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Oguchi Keiko
Departments Of Anesthesiology Graduate School Of Medicine The University Of Tokyo
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Hanaoka Kazuo
Departments Of Anesthesiology Graduate School Of Medicine The University Of Tokyo
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Hanaoka Kazuo
Department Of Anesthesia University Of Tokyo Hospital
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HIROSE KENZO
Department of Endocrine Surgery, Tokyo Women's Medical College
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Kawana Y
Departments Of Pharmacology Graduate School Of Medicine The University Of Tokyo
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OYAMADA Hideto
Department of Pharmacology, School of Medicine, Showa University
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YAMAZAWA Toshiko
Departments of Pharmacology, Graduate School of Medicine, The University of Tokyo
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WAKATSUKI Kazunao
Department of Pharmacology, School of Medicine, Showa University
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TAGAMI Megumi
Departments of Anesthesiology, Graduate School of Medicine, The University of Tokyo
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IINO Masamitsu
Departments of Pharmacology, Graduate School of Medicine, The University of Tokyo
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Hirose Kenzo
Department Of Endocrine Surgery Tokyo Women's Medical College
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Hirose Kenzo
Departments Of Pharmacology Graduate School Of Medicine The University Of Tokyo
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Oyamada Hideto
Dep. Of Pharmacology School Of Medicine Showa Univ.
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Tagami Megumi
Departments Of Anesthesiology Graduate School Of Medicine The University Of Tokyo
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Tagami Megumi
Department Of Anesthesiology And Pain Relief Center The University Of Tokyo
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Iino Masamitsu
Departments Of Pharmacology Graduate School Of Medicine The University Of Tokyo
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Iino Masamitsu
Department Of Pharmacology Graduate School Of Medicine The University Of Tokyo
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Yamazawa Toshiko
Departments Of Pharmacology Graduate School Of Medicine The University Of Tokyo
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Wakatsuki Kazunao
Department Of Pharmacology School Of Medicine Showa University
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Kawana Yoko
Department of Pharmacology, Graduate School of Medicine, The University of Tokyo
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Yamazawa Toshiko
Department of Pharmacology, Graduate School of Medicine, The University of Tokyo
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