Ihanamäki Tapio, Pelliniemi Lauri J, Vuorio Eero
Department of Ophthalmology, Helsinki University Central Hospital, PO Box 220, FIN-00029 HUS Helsinki, Finland.
Prog Retin Eye Res. 2004 Jul;23(4):403-34. doi: 10.1016/j.preteyeres.2004.04.002.
The three-dimensional structure of the eye plays an important role in providing a correct optical environment for vision. Much of this function is dependent on the unique structural features of ocular connective tissue, especially of the collagen types and their supramolecular structures. For example, the organization of collagen fibrils is largely responsible for transparency and refraction of cornea, lens and vitreous body, and collagens present in the sclera are largely responsible for the structural strength of the eye. Phylogenetically, most of the collagens are highly conserved between different species, which suggests that collagens also share similar functions in mice and men. Despite considerable differences between the mouse and the human eye, particularly in the proportion of the different tissue components, the difficulty of performing systematic histologic and molecular studies on the human eye has made mouse an appealing alternative to studies addressing the role of individual genes and their mutations in ocular diseases. From a genetic standpoint, the mouse has major advantages over other experimental animals as its genome is better known than that of other species and it can be manipulated by the modern techniques of genetic engineering. Furthermore, it is easy, quick and relatively cheap to produce large quantities of mice for systematic studies. Thus, transgenic techniques have made it possible to study consequences of specific mutations in genes coding for structural components of ocular connective tissues in mice. As these changes in mice have been shown to resemble those in human diseases, mouse models are likely to provide efficient tools for pathogenetic studies on human disorders affecting the extracellular matrix. This review is aimed to clarify the role of collagenous components in the mouse and human eye with a closer look at the new findings of the collagens in the cartilage and the eye, the so-called "cartilage collagens".
眼睛的三维结构在为视觉提供正确的光学环境方面起着重要作用。这项功能很大程度上依赖于眼结缔组织独特的结构特征，尤其是胶原类型及其超分子结构。例如，胶原纤维的排列在很大程度上决定了角膜、晶状体和玻璃体的透明度和折射，而巩膜中存在的胶原在很大程度上决定了眼睛的结构强度。从系统发育角度来看，大多数胶原在不同物种间高度保守，这表明胶原在小鼠和人类中也具有相似功能。尽管小鼠和人眼存在显著差异，尤其是不同组织成分的比例不同，但对人眼进行系统的组织学和分子研究存在困难，这使得小鼠成为研究个体基因及其突变在眼部疾病中作用的有吸引力的替代选择。从遗传学角度来看，小鼠相较于其他实验动物具有主要优势，因为其基因组比其他物种的更清楚，并且可以通过现代基因工程技术进行操作。此外，大量繁殖小鼠用于系统研究既容易、快速又相对便宜。因此，转基因技术使得研究编码眼结缔组织结构成分的基因中的特定突变在小鼠中的后果成为可能。由于已证明小鼠中的这些变化与人类疾病中的变化相似，小鼠模型可能为研究影响细胞外基质的人类疾病的发病机制提供有效的工具。这篇综述旨在阐明胶原成分在小鼠和人眼中的作用，同时更深入地探讨软骨和眼睛中胶原的新发现，即所谓的“软骨胶原”。
