| Project/Area Number |
63870041
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| Research Category |
Grant-in-Aid for Developmental 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 University |
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Principal Investigator |
ORII Tadao Gifu University School of Medicine, Professor, 医学部・小児科, 教授 (20045339)
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| Co-Investigator(Kenkyū-buntansha) |
SUZUKI Yasuyuki Gifu University Hospital, Instructor, 医学部附属病院小児科, 講師 (00163014)
YAMAGUCHI Seiji Gifu University Hospital, Instructor, 医学部附属病院小児科, 講師 (60144044)
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| Project Period (FY) |
1988 – 1990
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| Project Status |
Completed (Fiscal Year 1990)
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| Budget Amount *help |
¥10,100,000 (Direct Cost: ¥10,100,000)
Fiscal Year 1990: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1989: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1988: ¥8,700,000 (Direct Cost: ¥8,700,000)
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| Keywords | Peroxisomal disease / Screening / Very-long-chain fatty acid / Dicarboxylic acid / ペルオキシソ-ム病 / ペルオキシソーム病 / スクリーニング / 有機酸分析 / 極長鎖脂肪酸分析 |
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| Research Abstract |
Screening system of peroxisomal diseases including Zellweger syndrome. Neonatal adrenoleukodystrophy, infantile Refsum's disease, X-linked adrenoleukodystrophy and single enzyme deficiency of peroxisomal beta-oxidation were developed.
(1) Screening by verylongchain fatty acid analysis of serum sphingomyelin was established. Lignoceric acid and cerotic acid were extremely high in these disorders. Total fatty acid analysis using extracts from dried spotted blood was applicable to mass screening of peroxisomal diseases.
(2) Urinary organic acid analysis was also useful for the screening of peroxisome-deficient disorders. Massive excretion of dicarboxylic acids, high ratio of sebacic acid/adipic acid. Detection of 2-hydroxysebacic acid were the useful marker.
(3) Biochemical and morphologic analyses of biopsied rectal mucosa was useful for the early postnatal diagnosis of Zellweger syndrome.
(4) Radio labeled lignoceric acid oxidation and indirect immunofluorescent staining of peroxisomes were applicable to the prenatal diagnosis.
(5) Zellweger-like syndrome, a new variant form of peroxisomal disease, was reported. Genetic heterogeneity of peroxisome-deficient diseases was investigated.
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