Disturbance in the regulation of the type of collagen synthesized in a form of osteogenesis imperfecta.
Fibroblasts derived from skin biopsies of a patient with a congenital defect of connective tissue revealed a disturbance in collagen synthesis. The defect was found in the mechanism that controls the type of collagen synthesized. Biochemical data as well as evaluation of immunofluorescent micrographs using collagen type-specific antibodies, suggested that the fibroblasts of this patient synthesized type III collagen, at a time and rate which was not found in fibroblasts from an age-matched healthy individual.
D002478:Cells, Cultured; D003094:Collagen / Q000096:biosynthesis* / Q000276:immunology; D005347:Fibroblasts / Q000378:metabolism / Q000648:ultrastructure; D005455:Fluorescent Antibody Technique; D005998:Glycine / Q000378:metabolism; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000378:metabolism*; D010446:Peptide Fragments / Q000032:analysis; D011392:Proline / Q000378:metabolism; D012867:Skin / Q000378:metabolism*
D010446:Peptide Fragments; D003094:Collagen; D011392:Proline; D005998:Glycine