Engfeldt B, Hjerpe A
Acta Pathol Microbiol Scand A. 1976 Nov;84(6):488-94. doi: 10.1111/j.1699-0463.1976.tb00146.x.
Epiphyseal cartilage and bone tissue from two cases of osteogenesis imperfecta congenita and one control case with similar skeletal age were examined regarding their glycosaminoglycan content. The diseased bone tissue showed a 3-fold increase in glycosaminoglycans, and 20-25 per cent of the chondroitin sulphate disaccharides seemed to be disulphated. The diseased cartilages showed only traces of material with characteristics of disulphates disaccharides. No disulphates disaccharides were isolated from the control materials. No difference between diseased and control material was indicated regarding molecular size, chondroitin-4-sulphate/chondroitin-6-sulphate ratio or contents of keratan sulphate and hyaluronic acid. The disease is thus associated with fundamental changes of the glycosaminoglycan structure, and these changes may be of functional importance to the mineralization process as well as to the organisation of collagen.
对两例先天性成骨不全病例以及一例骨骼年龄相似的对照病例的骨骺软骨和骨组织进行了糖胺聚糖含量检测。患病骨组织中的糖胺聚糖增加了3倍，且约20%-25%的硫酸软骨素二糖似乎是双硫酸化的。患病软骨仅显示出微量具有双硫酸化二糖特征的物质。对照材料中未分离出双硫酸化二糖。在分子大小、硫酸软骨素-4/硫酸软骨素-6比例或硫酸角质素和透明质酸含量方面，患病材料与对照材料未显示出差异。因此，该疾病与糖胺聚糖结构的根本变化有关，这些变化可能对矿化过程以及胶原蛋白的组织具有功能重要性。
