Brenner R E, Vetter U, Nerlich A, Wörsdorfer O, Teller W M, Müller P K
Max Planck Institut für Biochemie, Martinsried, FRG.
Eur J Clin Invest. 1989 Apr;19(2):159-66. doi: 10.1111/j.1365-2362.1989.tb00211.x.
We analysed the composition of compact bone from 30 patients suffering from various forms of osteogenesis imperfecta (OI). Collagen and total protein content per cell of controls increased with the age of the donors, but were generally low in OI. In fibroblast cultures controls had a maximum of collagen synthesis between 2 and 9 years of age, an observation which was not seen in OI cells. In bone collagen both OI type II patients showed overhydroxylation of lysyl residues as did some patients with OI type III (25%) and OI type IV (33%). The collagen of OI type I patients was never found to be overmodified. In controls, collagen III was found exclusively during fetal time while it was present in significant amounts in bone tissue of all types of OI. The proportion of collagen V was somewhat higher in OI bones (about twice) than in controls. Our data suggest that the normal increase of collagen synthesis is defective in patients with OI. Perhaps some of these changes are due to specific molecular defects in collagen while others may be due to defective regulation of the maturation process.
我们分析了30例患有各种形式成骨不全症（OI）患者的致密骨组成。对照组每个细胞的胶原蛋白和总蛋白含量随供体年龄增加，但在OI患者中普遍较低。在成纤维细胞培养中，对照组在2至9岁之间胶原蛋白合成量最高，而在OI细胞中未观察到这一现象。在骨胶原蛋白中，II型OI患者以及部分III型（25%）和IV型（33%）OI患者的赖氨酰残基存在过度羟化现象。I型OI患者的胶原蛋白从未发现有过度修饰。在对照组中，仅在胎儿期发现有胶原蛋白III，而在所有类型OI的骨组织中都大量存在。OI骨骼中胶原蛋白V的比例比对照组略高（约两倍）。我们的数据表明，OI患者胶原蛋白合成的正常增加存在缺陷。这些变化可能部分是由于胶原蛋白的特定分子缺陷，而其他变化可能是由于成熟过程的调节缺陷。
