title: Unexpected ultrastructral changes in bone osteiod collagens in osteogenesis imperfecta.
abstract: Osteogenesis Imperfecta (OI) is a heterogeneous, inherited bone disorder usually resulting from a defect in collagen synthesis or function. The Sillence classification recognises four OI subtypes of which type III is the severe, progressively deforming form. Here, we report distinctive ultrastructural abnormalities of bone osteoid collagen fibrils from three patients with OI type III and compared with normal controls. Collagen biochemistry of these patients showed normal alpha1(I) and alpha2(I) chains, despite the structurally abnormal collagen fibrils. The expected lamellar organisation of normal osteoid was absent in the bone biopsies of these patients. In addition their collagen fibrils had frayed edges and no periodicity was observed in most of these fibrils. These collagen fibrils were also flower like, twisted, spiralled and sparsely distributed throughout a very thick osteoid with patchy mineralisation. These structurally abnormal collagens may not be able to provide the nucleating and scaffolding sites for normal mineralisation and may lead to the bone fragility observed in OI.
authors.affiliation: Department of Musculo-Skeletal Science, Institute of Orthopaedics, Royal National Orthopaedic Hospital Trust, University College London, Brockley Hill, Stanmore, Middlesex HA7 4LP, UK. p.sarathchandra@imperial.c.uk
authors.forename: Padmini
authors.initials: P
authors.lastname: Sarathchandra
authors.forename: F Michael
authors.initials: FM
authors.lastname: Pope
mesh_terms: D015519:Bone Density; D001842:Bone and Bones / Q000503:physiopathology / Q000648:ultrastructure*; D002113:Calcification, Physiologic; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000096:biosynthesis / Q000737:chemistry / Q000648:ultrastructure*; D005260:Female; D006253:Haversian System / Q000503:physiopathology / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D008297:Male; D046529:Microscopy, Electron, Transmission; D010011:Osteocytes / Q000648:ultrastructure; D010013:Osteogenesis Imperfecta / Q000235:genetics / Q000473:pathology*; D010375:Pedigree
chemical_list: D003094:Collagen