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: A Imamura, N Shimozawa, Y Suzuki, Z Zhang, T Tsukamoto, Y Fujiki, T Orii, T Osumi, N Kondo
• Journal: Brain & development (Brain Dev) Vol. 22 Issue 1 Pg. 8-12 (Jan 2000) ISSN: 0387-7604 [Print] Netherlands
• PMID: 10761827 (Publication Type: Journal Article)

Topics

• Animals
• Cell Culture Techniques
• Fibroblasts (metabolism)
• Humans
• Peroxisomal Disorders (metabolism, physiopathology)
• Peroxisomes (metabolism)
• Recovery of Function
• Temperature