| Project/Area Number |
05454286
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | GIFU UNIVEERSITY |
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Principal Investigator |
ORII Tadao Gifu University School of Medicine Professor, 医学部, 教授 (20045339)
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| Co-Investigator(Kenkyū-buntansha) |
FUKAO Toshiyuki Gifu University School of Medicine Reseach Associate, 医学部・付属病院, 助手 (70260578)
TOMATSU Shunji Gifu University School of Medicine Reseach Associate, 医学部・付属病院, 助手 (70237105)
SUKEGAWA Kazuko Gifu University School of Medicine Reseach Associate, 医学部, 助手 (60115409)
SIMOZAWA Nobuyuki Gifu University School of Medicine Assistant Professor, 医学部・付属病院, 講師 (00240797)
SUZUKI Yasuyuki Gifu University School of Medicine Assistant Professor, 医学部・付属病院, 講師 (00163014)
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| Project Period (FY) |
1993 – 1994
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| Project Status |
Completed (Fiscal Year 1994)
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| Budget Amount *help |
¥6,600,000 (Direct Cost: ¥6,600,000)
Fiscal Year 1994: ¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 1993: ¥4,600,000 (Direct Cost: ¥4,600,000)
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| Keywords | inherited metabolic disease / Mucopolysacharidoses / beta-Ketothiolase deficiency / Peroxisomal disease |
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| Research Abstract |
1.Several mutations in MPSII IVA and VII patients have first identified. The genomic structure for GALNS gene has been determined. Molecular analysis of MPSVII patients were performed cooperatively and extensively with prof. Sly's group and 12 different mutations were identified. Nearly 100 MPSIVA patients were supplied by international cooperative study, 45 various kinds of mutations have been defined ; especialy common double gene deletion found on Japanese ancestry and common missense mutation in Caucasian ancestry were noted.
2.Molecular basis of beta-ketothiolase deficiency has been analyzed in 21 patients. We will report 17 mutations and findings in 13 patients in Mutation Update, a areview article. We discovered a phenomenon that an exonic mutatioon caused the exon skipping and the result was published in J.Clin.Invest..Other findngs were reported in three papers in Hum. Mutat. and a paper in Prenatal Diagnosis. We also cloned human cDNA for cytosolic acetoacetyl-CoA thiolase with anti-human cytosolic thiolase antibody and publishied it in BBRC.
3.cDAN for human peroxisomal acyl-CoA oxidase was cloned and pathogenic gene mutation was identified in siblings with acyl-CoA oxidase deficiency. Several gene nutations were identified in patients with adrenoleukodystrophy. Chromosomal localization of PAF-1, the pathogenic gene for group F Zellweger syndrome, was determined to be 8q21.1 Gene mutations were identified in 3 group F patients. A candidate gene for group C Zellweger syndrome has been cloned recently.
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