Altered ratio of collagen chains in bone of a patient with non-lethal osteogenesis imperfecta
| Autor: | V.N. Kalinin, B.M. Sher, B.P. Sokolov, I. Mařik, Zdenek Deyl, Jonathan S. Hausmann |
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| Rok vydání: | 1992 |
| Předmět: |
Male
medicine.medical_specialty medicine.disease_cause Bone and Bones Extracellular matrix Internal medicine medicine Humans In patient Cyanogen Bromide Molecular Biology Skin Type III collagen Mutation Chemistry Infant Anatomy Osteogenesis Imperfecta medicine.disease Collagen type I alpha 1 Endocrinology Osteogenesis imperfecta Molecular Medicine Electrophoresis Polyacrylamide Gel Collagen Type I collagen |
| Zdroj: | Biochimica et biophysica acta. 1138(2) |
| ISSN: | 0006-3002 |
| Popis: | Bone from a patient with osteogenesis imperfecta contained type III collagen which was absent in control bone. The ratio of alpha 1(I)/alpha 2(I) in type I collagen of patient's bone was increased (2.9 vs. 2.3 +/- 0.2 in controls) and the ratio of dimers beta 11/beta 12/beta 22 was altered due to the increased beta 22 content. No abnormality was observed in collagen from the patient's skin. The altered composition of collagen in bone, but the normal composition in skin suggests that the disease in the patient is due to impaired regulation of the synthesis of collagens in bone, rather than by a mutation in one of the two type I collagen genes. Unlike in skin, all the type III collagen in patient's bone was pepsin-soluble indicating an inability of the bone to incorporate type III collagen into mature highly cross-linked extracellular matrix. |
| Databáze: | OpenAIRE |
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