Mundlos S, Olsen B R
Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA.
FASEB J. 1997 Mar;11(4):227-33.
A range of osteochondrodysplasias is caused by mutations in components of the extracellular matrix in cartilage and bone and in molecules that are important for posttranslational processing of such components. Mutations in the genes encoding the two polypeptide subunits of collagen I cause defects in the structure of bone matrix while mutations in genes encoding cartilage-specific collagens are responsible for several chondrodysplasias. Abnormalities in cartilage structure and function can also be due to mutations in structural noncollagenous components such as aggrecan and cartilage oligomeric matrix protein. Finally, several cartilage and bone disorders are due to abnormalities in sulfate transport and regulation of bone matrix homeostasis.
一系列骨软骨发育不良是由软骨和骨细胞外基质成分以及对此类成分进行翻译后加工至关重要的分子中的突变引起的。编码胶原蛋白I的两个多肽亚基的基因突变会导致骨基质结构缺陷，而编码软骨特异性胶原蛋白的基因突变则是几种软骨发育不良的原因。软骨结构和功能异常也可能是由于聚集蛋白聚糖和软骨寡聚基质蛋白等结构性非胶原蛋白成分的突变所致。最后，几种软骨和骨疾病是由于硫酸盐转运异常和骨基质稳态调节异常引起的。
