Cystinosis phenotypes have identical defective cystine clearance pattern.
Exposure of cultured skin fibroblast of normal, infantile nephropathic, juvenile-late-onset and adult type cystinotic patients and their corresponding obligate heterozygotes to 0.5 mmol/l of 35S cystine dimethyl ester for 30 minutes, resulted in an accumulation of cystine within the cells, and was used to look for differences in cystine clearance between the different cell types. The results suggested that all cystinotic variants are defective in their capacity to eliminate cystine to the same extent. The presented data imply that, separate clinical phenotypic variants of cystinosis, cannot be differentiated biochemically by the assay of cystine egress.
Steinherz
R
R
Department of Organic Chemistry, Weizmann Institute of Science, Rehovot, Israel.
Makov
N
N
Kohn
G
G
Rachmel
A
A
D000328:Adult; D002478:Cells, Cultured; D003545:Cysteine / Q000378:metabolism; D003553:Cystine / Q000031:analogs & derivatives / Q000378:metabolism* / Q000494:pharmacology; D003554:Cystinosis / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000187:drug effects / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008247:Lysosomes / Q000378:metabolism; D008297:Male; D010641:Phenotype; D013462:Sulfur Radioisotopes
D013462:Sulfur Radioisotopes; D003553:Cystine; D003545:Cysteine; C034582:cystine dimethyl ester