Title |
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder
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Published in |
Orphanet Journal of Rare Diseases, September 2013
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DOI | 10.1186/1750-1172-8-138 |
Pubmed ID | |
Authors |
Kevin Berendse, Merel S Ebberink, Lodewijk IJlst, Bwee Tien Poll-The, RonaldJ A Wanders, Hans R Waterham |
Abstract |
Zellweger spectrum disorders (ZSDs) are multisystem genetic disorders caused by a lack of functional peroxisomes, due to mutations in one of the PEX genes, encoding proteins involved in peroxisome biogenesis. The phenotypic spectrum of ZSDs ranges from an early lethal form to much milder presentations. In cultured skin fibroblasts from mildly affected patients, peroxisome biogenesis can be partially impaired which results in a mosaic catalase immunofluorescence pattern. This peroxisomal mosaicism has been described for specific missense mutations in various PEX genes. In cell lines displaying peroxisomal mosaicism, peroxisome biogenesis can be improved when these are cultured at 30°C. This suggests that these missense mutations affect the folding and/or stability of the encoded protein. We have studied if the function of mutant PEX1, PEX6 and PEX12 can be improved by promoting protein folding using the chemical chaperone arginine. |
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