2002 Fiscal Year Final Research Report Summary
ANALYSIS OF TEMPERATURE SENSITIVE IN PEROXISOME BIOGENESIS DISORDERS
| Project/Area Number |
13670791
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Gifu University |
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Principal Investigator |
SHIMOZAWA Nobuyuki Gifu University, School of Medicine, Department of Pediatrics, Associate Professor, 医学部, 助教授 (00240797)
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| 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)
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| Project Period (FY) |
2001 – 2002
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| Keywords | PEROXISOME / TEMPERATURE SENSITIVE / THREE-DEMENTIONAL STRUCTURE / INTRACELLULAR PROTEIN SORTING |
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| 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
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