| Abstract |
Collagen production by skin fibroblast cell strains from normal subjects
and age-matched patients with the mendelian disorder -- Osteogenesis
Imperfecta (OI) -- was studied in culture. Number of generations in culture,
phase of growth, labelling times, and site of biopsy did not influence
collagen production by normal skin fibroblasts. OI cell strains from
patients with dominantly inherited OI have abnormal morphology and growth
in culture. The ratio of type I to protype III collagen is reduced in OI
types I, II and IV (Sillence classification). Type III OI could not be
distinguished from normal strains by the analysis used. From the collagen
phenotype (biochemical parameters) we were able to distinguish different
OI phenotypes and to correlate these with clinical phenotypes. One form of
OI type I produces an unstable collagen that is degraded to small peptides
in culture.
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