Osteochondritis dissecans (OCD), an endoplasmic reticulum storage disease?: a morphological and molecular study of OCD fragments
| Autor: | M M Rapport, T Nicolaisen, B Staergaard, H A Kruse, Peter Storgaard Skagen, T Horn |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Fibrillar Collagens Physical Therapy Sports Therapy and Rehabilitation Matrix (biology) Chondrocyte Extracellular matrix Chondrocytes Microscopy Electron Transmission medicine Humans Orthopedics and Sports Medicine Endochondral ossification Aggrecan Chemistry Endoplasmic reticulum Cartilage Sequence Analysis DNA Middle Aged medicine.disease Osteochondritis Dissecans Osteochondritis dissecans Extracellular Matrix Phenotype medicine.anatomical_structure Female Endoplasmic Reticulum Rough |
| Zdroj: | Scandinavian Journal of Medicine & Science in Sports. 21:e17-e33 |
| ISSN: | 0905-7188 |
| DOI: | 10.1111/j.1600-0838.2010.01128.x |
| Popis: | Osteochondritis dissecans (OCD) fragments, cartilage and blood from four patients were used for morphological and molecular analysis. Controls included articular cartilage and blood samples from healthy individuals. Light microscopy and transmission electron microscopy (TEM) showed abnormalities in chondrocytes and extracellular matrix of cartilage from OCD patients. Abnormal type II collagen heterofibrils in "bundles" and chondrocytes with abnormal accumulation of matrix proteins in distended rough endoplasmic reticulum were typical findings. Further, Von Kossa staining and TEM showed empty lacunae close to mineralized "islands" in the cartilage and hypertrophic chondrocytes containing accumulated matrix proteins. Immunostaining revealed: (1) that types I, II, VI and X collagens and aggrecans were deposited intracellulary and (2) co-localization within the islands of types I, II, X collagens and aggrecan indicating that hypertrophic chondrocytes express a phenotype of bone cells during endochondral ossification. Types I, VI and X collagens were also present across the entire dissecates suggesting that chondrocytes were dedifferentiated. DNA sequencings were non-conclusive, only single nucleotide polymorphism was found within the COL2A1 gene for one patient. We suggest that OCD lesions are caused by an alteration in chondrocyte matrix synthesis causing an endoplasmic reticulum storage disease phenotype, which disturbs or abrupts endochondral ossification. |
| Databáze: | OpenAIRE |
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