Cetta G, Lenzi L, Balduini C, Valli M, Tenni R, De Luca G, Castellani A A
Ital J Biochem. 1980 Sep-Oct;29(5):337-50.
Urinary GAGs from patients affected with Osteogenesis Imperfecta (O.I.) type I, type II and type III - according to Sillence et al. (1979) - have been investigated. Galactosamine to glucosamine ratio resulted significantly decreased in O.I. type II and III, whereas smaller differences in the mildest type of the disease were observed. Cellulose polyacetate electrophoresis of urinary GAGs purified from some patients showed the presence of a slowly moving polysaccharide substance, which did not appear in normal subjects. Moreover some pathological fractions, mainly constituted of ChS on the basis of chemical analysis and electrophoretic behaviour, were not digested by testicular hyaluronidase and presented anomalous structures as compared with the corresponding normal ones. These results seem to indicate that in some forms of O.I. the metabolic defect(s) not only affects the synthesis or the catabolism of a particular type of collagen, but also involves the proteoglycan component of the connective tissue.
根据西伦斯等人（1979年）的分类，对I型、II型和III型成骨不全症（O.I.）患者的尿糖胺聚糖（GAGs）进行了研究。结果显示，II型和III型成骨不全症患者的半乳糖胺与葡萄糖胺的比例显著降低，而在病情最轻的类型中观察到的差异较小。对部分患者纯化的尿GAGs进行醋酸纤维素电泳，结果显示存在一种迁移缓慢的多糖物质，而正常受试者中未出现这种物质。此外，根据化学分析和电泳行为，一些主要由硫酸软骨素（ChS）组成的病理组分，不能被睾丸透明质酸酶消化，并且与相应的正常组分相比呈现出异常结构。这些结果似乎表明，在某些类型的成骨不全症中，代谢缺陷不仅影响特定类型胶原蛋白的合成或分解代谢，还涉及结缔组织的蛋白聚糖成分。
