ANALYSIS OF TEMPERATURE SENSITIVE IN PEROXISOME BIOGENESIS DISORDERS

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(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.