ANALYSIS OF TEMPERATURE SENSITIVE IN PEROXISOME BIOGENESIS DISORDERS

• Project/Area Number: 13670791
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Gifu 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
• Project Status: Completed (Fiscal Year 2002)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,900,000); Fiscal Year 2002: ¥1,900,000 (Direct Cost: ¥1,900,000); Fiscal Year 2001: ¥2,000,000 (Direct Cost: ¥2,000,000)
• Keywords: PEROXISOME / TEMPERATURE SENSITIVE / THREE-DEMENTIONAL STRUCTURE / INTRACELLULAR PROTEIN SORTING / タンパク細胞内輸送 / ペルオキシソーム

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

• [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
• [Publications] Y Takemoto, N Shimozawa et al.: "Epidemiology of X-linked adrenoleukodystrophy in Japan"J Hum Genet. 47. 590-593 (2002)
• [Publications] Imamura A.Shimozawa N et al.: "Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders"J Med Genet. 38. 871-874 (2001)
• [Publications] Y.Suzuki, N.Shimozawa et al.: "Peroxisomal acyl-CoA oxidase deficiency : MR2 findings and molecular bases"J Pediatr.. 140. 128-130 (2002)
• [Publications] Raas-Rothschild A, Shimozawa N et al.: "A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotyp"Am J Hum Genet. 70. 1062-1068 (2002)
• [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)
• [Publications] N.Shimozawa et al.: "Genetic heterogeneity of Peroxisome Biogenesis Disorders among Japanese patients"Am J Med Genet. (in press).
• [Publications] Suzuki Y, Shimozawa N et al.: "Clinical, biochemical, genetic aspects and neuronal migration in peroxisome biogenesis disorders"J.Inherit.Metab.Dis. 24. 151-165 (2001)
• [Publications] Suzuki Y, Shimozawa N et al.: "Genetic and molecular bases of peroxisome biogenesis disorders"Genetics in Medicine. 3. 372-376 (2001)
• [Publications] Ito R, Shimozawa N et al.: "Temperature-sensitive phenotype of Chinese hamster ovary cells defective in PEX5 gene"Biochem Biophys Res Commun. 288. 321-327 (2001)
• [Publications] Nakano K, Shimozawa N et al.: "D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes"J Pediatr. 139. 865-867 (2001)
• [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)
• [Publications] Suzuki Y, Shimozawa N et al.: "Peroxisomal acyl-CoA oxidase deficiency:MRI findings and Molecular bases"J Pediatr. (in press).