title: Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans.
abstract: We have found that peroxisome assembly is temperature-sensitive (ts) in mild forms of peroxisome biogenesis disorders (PBDs), that is all infantile Refsum disease (IRD) patients and a few neonatal adrenoleukodystrophy patients of several complementation groups. The number of peroxisomes increased daily in incubation at 30 degrees C in the ts cells. Oxidation of very long-chain fatty acids, processing of acyl-CoA oxidase and dihydroxyacetonephosphate acyltransferase activity also improved after 8 days incubation at 30 degrees C in the IRD fibroblasts. These biochemical functions of the peroxisome did not change at 30 degrees C in Zellweger fibroblasts. Number of peroxisomes gradually decreased after 4 days when the temperature shifted from 30 to 37 degrees C in the ts cells. These results indicate that the biochemical functions of peroxisome are also restored by incubation at 30 degrees C in the mild and ts phenotype of PBDs, and the results will aid to predict the severity and the prognosis of affected children.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan. aimamura@cc.gifu-u.ac.jp
authors.forename: A
authors.initials: A
authors.lastname: Imamura
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Z
authors.initials: Z
authors.lastname: Zhang
authors.forename: T
authors.initials: T
authors.lastname: Tsukamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Fujiki
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: T
authors.initials: T
authors.lastname: Osumi
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000818:Animals; D018929:Cell Culture Techniques; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D018901:Peroxisomal Disorders / Q000378:metabolism / Q000503:physiopathology*; D020675:Peroxisomes / Q000378:metabolism*; D020127:Recovery of Function; D013696:Temperature