To study how mutant type I collagen interferes with matrix deposition we investigated the extracellular matrix produced by cultured skin fibroblasts in thirteen patients affected by different forms of Osteogenesis Imperfecta. Two different approaches were used: a) the pericellular matrix produced during 24 h label was analyzed by SDS-PAGE; b) type I collagen present in the insoluble cell-layer fraction in long-term cultures was studied. Results showed that a very small amount of abnormal type I trimers were present regardless of the clinical phenotype. In only two cases mutant chains were clearly incorporated. These data indicate a selective deposition of normal collagen trimers over abnormal ones. Moreover, in long-term cultures a decreased amount of type I collagen was deposited as indicated by the relative increase in type V collagen. These data are discussed in light of results found in bone by other authors and suggest that decreased deposition of type I collagen could be a general feature in OI and not limited to null-allele OI probands.

Deposition of mutant type I collagen in the extracellular matrix of cultured dermal fibroblasts in osteogenesis imperfecta.

CETTA, GIUSEPPE;ROSSI, ANTONIO;TENNI, RUGGERO;VALLI, MAURIZIA;FORLINO, ANTONELLA;ZANABONI, GIUSEPPE;DYNE, KATHARINE MARY;
1993-01-01

Abstract

To study how mutant type I collagen interferes with matrix deposition we investigated the extracellular matrix produced by cultured skin fibroblasts in thirteen patients affected by different forms of Osteogenesis Imperfecta. Two different approaches were used: a) the pericellular matrix produced during 24 h label was analyzed by SDS-PAGE; b) type I collagen present in the insoluble cell-layer fraction in long-term cultures was studied. Results showed that a very small amount of abnormal type I trimers were present regardless of the clinical phenotype. In only two cases mutant chains were clearly incorporated. These data indicate a selective deposition of normal collagen trimers over abnormal ones. Moreover, in long-term cultures a decreased amount of type I collagen was deposited as indicated by the relative increase in type V collagen. These data are discussed in light of results found in bone by other authors and suggest that decreased deposition of type I collagen could be a general feature in OI and not limited to null-allele OI probands.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/134784
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