Muir H
Department of Biochemistry, Charing Cross and Westminster Medical School, London, UK.
Bioessays. 1995 Dec;17(12):1039-48. doi: 10.1002/bies.950171208.
Chondrocytes are specialised cells which produce and maintain the extracellular matrix of cartilage, a tissue that is resilient and pliant. In vivo, it has to withstand very high compressive loads, and that is explicable in terms of the physico-chemical properties of cartilage-specific macromolecules and with the movement of water and ions within the matrix. The functions of the cartilage-specific collagens, aggrecan (a hydrophilic proteoglycan) and hyaluronan are discussed within this context. The structures of cartilage collagens and proteoglycans and their genes are known and a number of informative mutations have been identified. In particular, collagen fibrillogenesis is a complex process which can be altered by mutations whose effects fit what is known about collagen molecular structural functions. In other instances, mutations have indicated new functions for particular molecular domains. As cartilage provides the template for the developing skeleton, mutations in genes for cartilage-specific proteins often produce developmental abnormalities. The search for mutations amongst such genes in heritable disorders is being actively pursued by many groups, although mutation and phenotype are not always well correlated, probably because of compensatory mechanisms. The special nature of the chondrocyte is stressed in connection with its cell involvement in osteoarthritis, the most widespread disease of diarthrodial joints.
软骨细胞是产生并维持软骨细胞外基质的特化细胞，软骨是一种具有弹性和柔韧性的组织。在体内，它必须承受非常高的压缩负荷，这可以根据软骨特异性大分子的物理化学性质以及基质内水和离子的移动来解释。在此背景下讨论了软骨特异性胶原蛋白、聚集蛋白聚糖（一种亲水性蛋白聚糖）和透明质酸的功能。软骨胶原蛋白和蛋白聚糖的结构及其基因是已知的，并且已经鉴定出一些具有信息价值的突变。特别是，胶原纤维形成是一个复杂的过程，可被某些突变改变，这些突变的影响符合已知的胶原分子结构功能。在其他情况下，突变揭示了特定分子结构域的新功能。由于软骨为发育中的骨骼提供模板，软骨特异性蛋白质基因的突变通常会导致发育异常。许多研究小组正在积极寻找遗传性疾病中此类基因的突变，尽管突变与表型并不总是密切相关，这可能是由于补偿机制的存在。软骨细胞的特殊性质在其与骨关节炎（滑膜关节最常见的疾病）的细胞参与方面得到了强调。
