|Budget Amount *help
¥2,900,000 (Direct Cost : ¥2,900,000)
Fiscal Year 1999 : ¥1,300,000 (Direct Cost : ¥1,300,000)
Fiscal Year 1998 : ¥1,600,000 (Direct Cost : ¥1,600,000)
(1) We isolated twelve complementation groups (A-H, J, 2, 3 and 6) of peroxisome biogenesis disorders (PBD), and abnormalities of peroxisomal membrane protein synthesis, not matrix-protein import, may be the primary defect at least in groups D, G and J.
(2) We identified newly pathogenic genes (PEX1, 10, 12, 13, 16 and 19) in six complementation groups of PBD (group E, B, 3, H, D and J).
(3) We demonstrated that milder forms of PBD are characterized by temperature-sensitive (TS) phenotypes of peroxisome- assembly processes in the fibroblasts of patients.
(4) We suggested by expression experiments using peroxisome-deficient CHO mutants, allelic heterogeneities of the PEX genes affected the peroxisomal protein import and functions and regulated the clinical severity in PBD.