Heterozygote Detection in Cystinosis, Using Leukocytes Exposed to Cystine Dimethyl Ester

Publisher Website
Google Scholar
Abstract
CYSTINOSIS, a genetic disorder characterized by autosomal recessive inheritance, typically produces progressive renal disease and death during childhood.1 , 2 Many cystinotic tissues, including isolated leukocytes3 and cultured fibroblasts,4 have large increases in intracellular cystine content found primarily within the lysosomes.5 , 6 Heterozygotes for cystinosis have no crystalline deposits in any tissues.1 , 2 In groups of heterozygotes, a small mean increase in intracellular cystine content can be found in isolated leukocytes and cultured skin fibroblasts,3 , 4 but some obligate heterozygotes cannot be identified since their fibroblast or leukocyte cystine concentrations are within the normal range.1 2 3 4 Subcellular fractionation studies7 or selective vacuolation with cysteine-penicillamine disulfide8 have . . .