Cystinosis: selective induction of vacuolation in fibroblasts by L-cysteine-D-penicillamine disulfide.
In cultured fibroblasts from individuals with cystinosis vacuolation is induced by exposure to L-cysteine-D-penicillamine disulfide. Normal fibroblasts do not show vacuolation on such exposure. These observations provide direct evidence that cystinotic cells have deficient activity of a lysosomal system for disulfide metabolism or transport. Induction of vacuolation by the mixed disulfide in cystinotic but not in normal cells furnishes a histological marker for cystinotic fibroblasts.
D001692:Biological Transport; D046508:Culture Techniques; D003545:Cysteine / Q000494:pharmacology*; D003553:Cystine / Q000378:metabolism; D003554:Cystinosis / Q000473:pathology*; D003593:Cytoplasm; D005347:Fibroblasts / Q000166:cytology* / Q000187:drug effects; D006801:Humans; D008247:Lysosomes / Q000378:metabolism; D008858:Microscopy, Phase-Contrast; D010396:Penicillamine; D013440:Sulfides / Q000378:metabolism / Q000494:pharmacology*
D013440:Sulfides; D003553:Cystine; D010396:Penicillamine; D003545:Cysteine