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2002 Fiscal Year Final Research Report Summary

ANALYSIS OF TEMPERATURE SENSITIVE IN PEROXISOME BIOGENESIS DISORDERS

Research Project

Project/Area Number 13670791
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionGifu University

Principal Investigator

SHIMOZAWA Nobuyuki  Gifu University, School of Medicine, Department of Pediatrics, Associate Professor, 医学部, 助教授 (00240797)

Co-Investigator(Kenkyū-buntansha) KATO Zenichiro  Gifu University, School of Medicine, Department of Pediatrics, Assistant Professor, 医学部附属病院, 助手 (90303502)
Project Period (FY) 2001 – 2002
KeywordsPEROXISOME / TEMPERATURE SENSITIVE / THREE-DEMENTIONAL STRUCTURE / INTRACELLULAR PROTEIN SORTING
Research Abstract

(1) We identified milder forms of Peroxisomal Biogenesis Disorders (PBD) were characterized by temperature sensitive (TS) mutation in the PEX13 gene.
(2) To clarify the mechanism of TS phenomenon, we analyze Pex13p-Pex14p interaction by three-dementional structure.
(3) We analyzed 286 Japanese patients with X-linked adrenoleukodystrophy (ALD), to clarify the epidemiology of ALD in Japan. The incidence of ALD in Japan was estimated to be between 1:3000 and 1:50000 boys.
(4) We identified 31 Japanese patients with peroxisome biogenesis disorders (PBDs). All 11 ZS patients in group B had a common mutation, a 2 base pair deletion in the PEX10 gene, homozygously. This mutation apparently arose once on an ancestral chromosome in the Japanese population. The incidence of the PBDs in Japan was estimated to be approximately 1 in 500,000 births

  • Research Products

    (6 results)

All Other

All Publications (6 results)

  • [Publications] N.Shimozawa et al.: "Genetic heterogeneity of Peroxisome Biogenesis Disorders among Japanese patient"Am J Med Genet. (in press).

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] N.Shimozawa et al.: "A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome"Biochem Biophys Res Commun. 292. 109-112 (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Raas-Rothschild A, Shimozawa N et al.: "A PEX6-Defective Peroxisome Biogenesis Disorder with Severe phenotype in an infant versus Mild Phenotype"Am J Hum Genet. 70. 1062-1068 (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Y.Suzuki, N Shimozawa et al.: "Peroxisomal acyl-CoA oxidase deficiency"J Pediatr. 140. 128-130 (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] T.Takemoto, N Shimozawa et al.: "Epidemiology of X-linked adrenoleukodystrophy in Japan"J Hum Genet. 47. 590-593 (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Imamura A, Shimozawa N et al.: "Temperature sensitive acyl-coA oxidase import in groupA peroxisome biogenesis disorders"J Med Genet. 38. 871-874 (2001)

    • Description
      「研究成果報告書概要(和文)」より

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Published: 2004-04-14  

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