| Project/Area Number |
15591100
|
|---|
| 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, LIFE SCIENCE RESEARCH CENTER, DIVISION OF GENOMICS RESEARCH, PROFESSOR, 生命科学総合実験センター, 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, 講師 (90303502)
|
|---|
| Project Period (FY) |
2003 – 2004
|
| Project Status |
Completed (Fiscal Year 2004)
|
| Budget Amount *help |
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2004: ¥1,600,000 (Direct Cost: ¥1,600,000)
Fiscal Year 2003: ¥1,900,000 (Direct Cost: ¥1,900,000)
|
|---|
| Keywords | PEROXISOME / TEMPERATURE SENSITIVE / PEROXISOMAL BIOGENESIS DISORDERS / INTRACELLULAR PROTEIN SORTING / THREE-DEMENTIONAL STRUCTURE / タンパク質細胞内輸送 |
|---|
| Research Abstract |
(1)We identified 31 Japanese patients with peroxisome biogenesis disorders (PBDs) and a common mutation arosed once on an ancestral chromosome in the Japanese population.
(2)We identified a new complementation group of PBDs with PEX14 as the defective gene.
(3)To clarify the mechanizm of temperature sensitive phenomenon, we analyze Pex13p-pex14p interaction by three dementional structure and far-UV circular dichroism spectra, using the purified recombinant proteins, and by the immunofluorescent studies, using the fibroblasts from the patients.
(4)We established the screening system of peroxisomal disorders by gas chromatography/mass spectrometry anafysis of very long chain fatty acids, phytanic acid and plasmalogen.
(5)We identified a peroxisome-specific isoform of Lon protease, an ATP-dependent protease with chaperone-like activities.
(6)We demonstrated peroxisomal localization in Purkinje cells and Bergmann glia of the developing mouse cerebellum, using double immunofluorescent staining for peroxisomal proteins.
|
