Type I Collagen Biosynthesis by Skin Fibroblasts from Patients with Idiopathic Juvenile Osteoporosis
| Autor: | Andrew E. Pocock, Roger Smith, Martin J. O. Francis |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Bone disease Osteoporosis Osteogenesis Imperfecta Type III Internal medicine medicine Humans Child Fibroblast Juvenile osteoporosis Cells Cultured Skin business.industry General Medicine Fibroblasts Osteogenesis Imperfecta medicine.disease Endocrinology medicine.anatomical_structure Osteogenesis imperfecta Immunohistochemistry Electrophoresis Polyacrylamide Gel Female Collagen business Type I collagen |
| Zdroj: | Clinical Science. 89:69-73 |
| ISSN: | 1470-8736 0143-5221 |
| DOI: | 10.1042/cs0890069 |
| Popis: | 1. Skin fibroblast lines were cultured from nine patients who had the features of idiopathic juvenile osteoporosis, six relatives, five unrelated control subjects and three unrelated patients with osteogenesis imperfecta type I. Some patients with idiopathic juvenile osteoporosis were adults whose previous osteoporosis was in remission. Two patients with idiopathic juvenile osteoporosis were siblings and one patient with idiopathic juvenile osteoporosis had a daughter with severe osteogenesis imperfecta (type III). 2. The ratio of type III to type I collagen, synthesized by fibroblasts, was increased in two of the patients with osteogenesis imperfecta type I and in the daughter with osteogenesis imperfecta type III, but was normal in all the other patients with idiopathic juvenile osteoporosis and the other relatives. 3. Radiolabelled collagen was digested by cyanogen bromide and separated on SDS-PAGE. Unreduced collagen peptides migrated normally, except those from both the two siblings with idiopathic juvenile osteoporosis. In these two lines, abnormal migration suggested the presence of collagen I mutations. 4. The secretion of synthesized collagen by these two idiopathic juvenile osteoporosis lines and two others was reduced to only 43–45% as compared with a line from a 13-year-old control subject, which was defined as 100%. The three osteogenesis imperfecta type I lines secreted 18–37%, the other five idiopathic juvenile osteoporosis lines secreted 57–75%, the relatives (including the daughter with severe osteogenesis imperfecta) secreted 49–115% and the controls secreted 69–102%. 5. We conclude that qualitative abnormalities of type I collagen associated with a reduction in total secreted collagen synthesis may occur in a minority of patients with idiopathic juvenile osteoporosis; these patients could represent a subset of patients with this disorder. |
| Databáze: | OpenAIRE |
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