| Co-Investigator(Kenkyū-buntansha) |
MORLE Laurette Institute Pasteur de Lyon CNRS (URA 1171), Senior Scientist, Senior Sci
ALLOISIO Nicole Institute Pasteur de Lyon CNRS (URA 1171), Senior Scientist, Senior Sci
DERAUNAY Jean Institute Pasteur de Lyon CNRS (URA 1171), Professor, 教授
HARANO Keiko Kawasaki University of Medical Welfare, Faculty of Medical Profession, Associate, 医療技術学部, 助教授 (00069072)
HARANO Teruo Kawasaki Medical School, Medicine, Associate Professor, 医学部, 助教授 (60069028)
OKAMOTO Naoto Kawasaki Medical School, Medicine, Research Associate, 医学部, 助手 (20204042)
INOUE Takafumi Kawasaki Medical School, Medicine, Research Associate, 医学部, 助手 (60203238)
WADA Hideho Kawasaki Medical School, Medicine, Assistant Professor, 医学部, 講師 (70191830)
KANZAKI Akio Kawasaki Medical School, Medicine, Assistant Professor, 医学部, 講師 (40148698)
SUGIHARA Takashi Kawasaki Medical School, Medicine, Assistant Professor, 医学部, 講師 (60140505)
YAMADA Osamu Kawasaki Medical School, Medicine, Associate Professor, 医学部, 助教授 (50104790)
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| Research Abstract |
The following results were obtained under collaboration with the French scientists.
1.Epidemiology of red cell membrane disorders of hereditary origin in the Japanese population : The most characteristic feature was the pressence of a large number of patients with band 4.2 anomalies (5.6%), in addition to the most frequent hereditary spherocytosis (HS) (50.5%).
2.Characteristic feature of the pathogenesis of HS in Japan :
As the causative factor of HS,the deficiency of ankyrin and/or spectrin was extremely rare in Japan contrary to the Western countries.Band 3 and/or band 4.2 anomalies appeared to be the major factors in Japan.Several new mutations were identified : i.e., Band 3 Fukuoka, Band 3 Okinawa, Band 3 Hiroshima, and complete deficiency of band 3 in cattle.
3.Band 4.2 anomalies :
Band 4.2 anomalies are the disorders almost exclusively specific for the Japanese population.We identified 34 cases from 20 independent families, most of which were of the Nippon Type (142 GCT*ACT).Several
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new mutations have been identified : i.e., Band 4.2 Komatsu, Band 4.2 Shiga, Band 4.2 doublet Nagano, and Band 4.2 doublet Kobe.
By utilizing red cells with complete band 4.2 deficiencies, it was clarified that band 4.2 does bind directly to spectrins, and that intramembrane particles and cytoskeletal network were strikingly affected and disrupted in the absence of band 4.2.
4.Morphogenesis of red cell membrane proteins :
During the erythroid maturation, spectrins and band 3 were expressed initially in erythroid precursors, and ankyrin and band 4.1 followed.Band 4.2 was expressed at the latest stage of erythroid maturation with its five isoforms.
5.Spectrin abnormalities :
As beta-spectrin (Sp) anomalies, beta-Sp Le Puy in Yamagata and beta-Sp Nagoya have newly been identified in addition to the previously reported beta-Sp Tokyo.The incidence of the allele^<LELY> polymorphism of alpha-spectrin gene was almost identical among Japanese and other races (French white, blacks, and Chinese).The marked instability of the cytoskeletal network in the complete deficiency of band 4.1 was verified by immuno-electron micrography.alpha-Sp anomalies were extremely rare in Japan. Less
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