Department of Orthopaedic Surgery, Rothman Institute, Thomas Jefferson University, Philadelphia, PA 19107, USA.
Int J Biochem Cell Biol. 2013 Aug;45(8):1556-67. doi: 10.1016/j.biocel.2013.05.017. Epub 2013 May 21.
Collagens form critical elements of extracellular matrices that provide mechanical strength to skeletal tissues and serve as a binding platform for cells of bone and cartilage. The formation of collagen-rich extracellular matrices is a complex process that involves intracellular and extracellular steps. Mutations in genes that encode individual chains of triple-helical collagens present in bone and cartilage are associated with heritable diseases of skeletal tissues. In addition, mutations in genes encoding proteins involved in the intracellular and extracellular modifications of collagens are also responsible for developing skeletal abnormalities. In this review, we will summarize the pathomechanisms of molecular and cellular consequences of mutations that alter collagen structure and function. Moreover, we will discuss the prospects and limitations of therapeutic approaches to minimize the effects of mutations that affect collagens of skeletal tissues.
胶原蛋白是细胞外基质的重要组成部分，为骨骼组织提供机械强度，并作为骨和软骨细胞的结合平台。富含胶原蛋白的细胞外基质的形成是一个复杂的过程，涉及细胞内和细胞外步骤。编码骨和软骨中三螺旋胶原蛋白的单个链的基因突变与骨骼组织的遗传性疾病有关。此外，编码参与胶原蛋白细胞内和细胞外修饰的蛋白质的基因突变也会导致骨骼异常的发生。在这篇综述中，我们将总结改变胶原蛋白结构和功能的突变的分子和细胞后果的发病机制。此外，我们还将讨论治疗方法的前景和局限性，以最大限度地减少影响骨骼组织胶原蛋白的突变的影响。
