Summary
Skin fibroblasts were cultured from 13 patients with Osteogenesis imperfecta and collagen biosynthesis was investigated in vitro. In those patients characterised by only mild manifestations of the disease, the ratio of collagen types I and III was disturbed. By contrast, fibroblasts obtained from patients with Osteogenesis imperfecta of a more severe type synthesised collagen types I/III in a normal ratio.
Zusammenfassung
Hautfibroblasten wurden von 13 Patienten mit Osteogenesis imperfecta gezüchtet und deren Kollagensynthese in vitro untersucht. Dabei fand sich bei 7 Patienten, die durch nur milde Manifestation der Erkrankung charakterisiert waren, eine Störung des Verhältnisses der Kollagentypen I und III. Fibroblasten von solchen Patienten mit einer schweren Form der Osteogenesis imperfecta synthetisierten die Kollagentypen I und III in einem normalen Verhältnis.
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References
Bornstein P, Sage A (1980) Structurally distinct collagen types. Ann Rev Biochem 49:957–1003
Epstein EH, Scott RP, Miller EJ, Piez KA (1971) Isolation and characterization of the peptides derived from soluble human and baboon skin collagen after cyanogen bromide cleavage. J Biol Chem 246:1718–1724
Krieg T, Müller PK (1977) The Marfan's syndrome. Exp Cell Biol 45:207–221
Krieg T, Feldmann U, Kessler W, Müller PK (1979) Biochemical characteristics of Ehlers-Danlos syndrome type VI in a family with one affected infant. Hum Genet 46:41–49
Krieg T, Aumailley M, Dessau W, Wiestner M, Müller PK (1980) Synthesis of collagen by human fibroblasts and their SV40 transformants. Exp Cell Res 125:23–30
McKusick VA (1972) Heritable disorders of connective tissue. C.V. Mosby St. Louis (USA), pp 390–441
Miller EJ (1976) Biochemical characteristics and biological significance of the genetically distinct collagens. Mol Cell Biochem 13:165–192
Müller PK, Kühn K (1977) Collagen polymorphism in normal and osteoarthritic cartilage. Acta Rhum Belg 1:23–38
Penttinen PP, Lichtenstein JR, Martin GR, McKusick VA (1975) Abnormal collagen metabolism in cultured cells in Osteogenesis imperfecta. Proc Natl Acad Sci 72:586–589
Pope FM, Martin GR, Lichtenstein JR, Penttinen R, Geron B, Rowe DW, McKusick V (1975) Patients with Ehlers-Danlos syndrome type IV lack type III collagen Proc Natl Acad Sci USA 72:1314–1316
Sillence DO, Senn A, Danks PM (1979) Genetic heterogeneity in Osteogenesis imperfecta. J Med Gen 16:101–116
Steinmann B, Martin GR, Baum RI, Crystal PG (1979) Synthesis and degradation of collagen by skin fibroblasts from controls and from patients with Osteogenesis imperfecta FEBS Letter 101:269–279
Sykes B, Francis MJO, Smith R (1977) Altered relations of 2 collagen types in Osteogenesis imperfecta. N Engl J Med 296:1200–1203
Trelstad RL, Rubin D, Gross J (1977) Osteogenesis imperfecta congenita. Evidence for a generalized molecular disorder of collagen. Lab Invest 36:501–508
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This work was supported by grants from the Deutsche Forschungsgemeinschaft (Mu 378/9 and Kr 558/I).
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Krieg, T., Kirsch, E., Matzen, K. et al. Osteogenesis imperfecta: Biochemical and clinical evaluation of 13 cases. Klin Wochenschr 59, 91–93 (1981). https://doi.org/10.1007/BF01477288
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DOI: https://doi.org/10.1007/BF01477288