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Decreased procollagen production in cultured fibroblasts from patients with Lowe's syndrome
Author(s) -
Palmieri M. J.,
O'Hara J.,
States B.,
Segal S.
Publication year - 1985
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805433
Subject(s) - hydroxyproline , procollagen peptidase , proline , fibroblast , intracellular , endocrinology , medicine , cell culture , kidney , hydroxylation , incubation , biology , chemistry , microbiology and biotechnology , biochemistry , enzyme , amino acid , genetics
The oculo‐cerebro‐renal syndrome described by Lowe is a catastrophic disease in children characterized by progressive eye, central nervous system and kidney degeneration. We determined procollagen production in cultured skin fibroblasts originating from patients with Lowe's syndrome as well as normal individuals after incubation of cells with [ 14 C]proline for 1, 4 and 20 h. Using [ 14 C]hydroxyproline formation, in relation to cell protein or DNA, as an index of procollagen production, we found that cultured cells from patients synthesized collagenous protein at a substantially reduced level. This decrease in synthesis in cultured fibroblasts from patients could not be accounted for by differences in the specific radioactivity of the free intracellular proline; moreover, it could not be attributed to differences in the kinetics of growth between normal and affected cell lines. The degree of hydroxylation of proline residues in collagen was the same in both normal and affected cells.