Non-collagenous protein screening in the human chondrodysplasias: link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin
| Autor: | Pierre Maroteaux, Thuc Pham Do, Ritta Stanescu, Françoise Chaminade, Victor Stanescu |
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| Rok vydání: | 1994 |
| Předmět: |
Fetal Proteins
Thanatophoric dysplasia Immunoblotting Cartilage Oligomeric Matrix Protein Osteochondrodysplasias Pseudoachondroplasia Kniest dysplasia medicine Humans Matrilin Proteins Growth Plate Achondroplasia Child Genetics (clinical) Glycoproteins Cartilage oligomeric matrix protein Extracellular Matrix Proteins biology Chemistry Infant Newborn Infant Membrane Proteins Proteins Anatomy medicine.disease Chromatography Ion Exchange Molecular biology Child Preschool biology.protein Diastrophic dysplasia Fibrochondrogenesis Electrophoresis Polyacrylamide Gel Proteoglycans medicine.symptom Carrier Proteins Hypochondrogenesis Fibromodulin |
| Zdroj: | American journal of medical genetics. 51(1) |
| ISSN: | 0148-7299 |
| Popis: | A gel-electrophoretic screening for link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin abnormalities was performed in fetuses, newborn infants, and children with various types of chondrodysplasia. Microdissected freeze-dried sections of upper tibial growth cartilage were extracted with 4M guanidinium chloride in the presence of proteolysis inhibitors. After dialysis against 8M urea, the extracts were submitted to stepwise ion-exchange chromatography to separate the large proteoglycans (aggrecans) from the other components. The latter were analyzed by gel electrophoresis, electrotransferred onto nitrocellulose membranes, and reacted with specific antibodies. Control samples from individuals with apparently normal growth were analyzed in the same runs. Two link protein bands with abnormal electrophoretic migration were found in a sporadic case of spondylometaphyseal dysplasia, Kozlowski type. Three link protein bands with the same migration as in the control samples were found in thanatophoric dysplasia, homozygous achondroplasia, achondrogenesis type II, hypochondrogenesis, Goldblatt syndrome, Desbuquois dysplasia, pseudoachondroplasia, and diastrophic dysplasia. In several pathologic cases with normal electrophoretic pattern of the link proteins, small link protein fragments appeared after reduction. The gel electrophoretic pattern of COMP was studied in thanatophoric dysplasia, diastrophic dysplasia, homozygous achondroplasia, fibrochondrogenesis, hypochondrogenesis, Goldblatt syndrome, and Kniest dysplasia. In all these cases the pattern was the same as in the control samples. The main band of fibromodulin had a normal migration rate in fibrochondrogenesis, Desbuquois dysplasia, Kniest dysplasia, and pseudoachondroplasia. It was delayed in diastrophic dysplasia. |
| Databáze: | OpenAIRE |
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