Journal
CELL BIOCHEMISTRY AND BIOPHYSICS
Volume 32, Issue -, Pages 165-170Publisher
HUMANA PRESS INC
DOI: 10.1385/CBB:32:1-3:165
Keywords
peroxisomes; temperature-sensitive mutation; PEX genes; organelle biogenesis; peroxisome biogenesis disorders (PBDs); Zellweger syndrome (ZS); neonatal adrenoleukodystrophy (NALD); infantile Refsum disease (IRD)
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Peroxisome biogenesis disorders (PBDs) contain various clinical phenotypes; Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD), decreasing in tho clinical severity in this order. We found that all IRD cell lines and some NALD lines belonging to several different complementation groups are temperature-sensitive in peroxisome assembly; that is, they lacked catalase-positive peroxisomes at 37 degrees C, but do gain the peroxisomes at 30 degrees C. We identified heterozygous mutations E55K/R119Stop in the PEX2 gene of an IRD patient of complementation group F. The E55K mutation was the direct cause of the temperature-sensitivity because similar phenotypes could be transferred to PEX2-defective CHO cells by transfecting the mutant gene. Thus, temperature-sensitive peroxisome assembly is representative of milder forms of PBDs.
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