Increased free-cystine content of fibroblasts cultured from patients with cystinosis.

Abstract:

:The presence of a significantly increased content of free-cystine in skin fibroblasts from both homozygotes and heterozygotes for cystinosis emphasizes the central role of cystine in this disease, even though the primary defect responsible for cystine accumulation is yet to be determined. The studies described in this communication provide evidence that cystine is compartmentalized in a subcellular location in cystinotic cells. In fact, the very growth of cystinotic fibroblasts in the presence more than 100 times the usual content of free-cystine is evidence that the accumulated cystine is not freely dispersed throughout the cell, since would otherwise inhibit many enzymes requiring free sulfhydryl groups for activity (Patrick, 1965). We have no evidence as to whether the cystine is located in a known subcellular organelle or in a previously unrecognized location. Skin fibroblasts may provide a convenient tool to pursue these questions.

authors

Schneider JA,Rosenbloom FM,Bradley KH,Seegmiller JE

doi

10.1016/0006-291x(67)90516-5

subject

Has Abstract

pub_date

1967-11-30 00:00:00

pages

527-31

issue

4

eissn

0006-291X

issn

1090-2104

pii

0006-291X(67)90516-5

journal_volume

29

pub_type

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