Abstract
We studied collagen synthesis, secretion and degradation by skin fibroblasts from 31 patients with osteogenesis imperfecta (OI) (5 cases of OI I, 3 of OI II, 14 of OI III, 9 of OI IV) and 12 age-matched controls (C). Control fibroblasts showed an increase in collagen synthesis between 2 and 9 years of donors' ages. Cells from OI patients did not reveal this increase, indicating a lack of collagen synthesis in early childhood. Secretion of collagen was not altered, whereas the relative amounts of collagen were decreased in OI I and II (C: 17,1 ± 5,4%, OI I: 14,4 ± 5,1%, OI II: 12,1 ± 5,9%). In OI III and IV it was normal (OI III: 17,0 ± 6,4%, OI IV: 17,9 ± 5,7%). Intracellular degradation of collagen was increased in all OI types and highest in the lethal OI II (C: 37 ± 12%, OI I: 54 ± 12%, 01 II: 65 ± 21%, OI III: 49 ± 19%, OI IV: 50 ± 10%). Suggestion: In OI the lack of adequate synthesis of extra cellular matrix proteins during early childhood may be secondary to other defects, but the decrease of fracture rates after that period suggests that above biochemical disturbance may be one step in the pathophysiologic pathway.
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Brenner, R., Vetter, U., Teller, W. et al. 117: DECREASED COLLAGEN SYNTHESIS BY SKIN FIBROBLASTS FROM 31 PATIENTS SUFFERING FROM OSTEOGENESIS IMPERFECTA. Pediatr Res 24, 280 (1988). https://doi.org/10.1203/00006450-198808000-00142
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DOI: https://doi.org/10.1203/00006450-198808000-00142