Molecular Structure and Function of Crystallins

-晶体蛋白在人和动物模型中都与白内障有关。gs -晶状体蛋白是成人晶状体中主要的gs -晶状体蛋白，在黄斑变性模型中，gs -晶状体蛋白也被发现在视网膜色素上皮中被诱导。gS基因在小鼠中被切除，导致正常纤维细胞成熟被破坏。这与纤维细胞结构的关键组成部分的异常有关，这表明晶体蛋白在维持晶状体和眼睛其他部位的细胞结构方面具有功能作用。实验正在进行中，以直接测量gS在关键细胞结构组装中的可能作用。对老年基因敲除小鼠的检查也为眼睛其他部位的缺陷提供了证据，这些缺陷可能为衰老提供模型。

gamma-crystallins are associated with cataract in both human and animal models. gS-crystallin is the major bg-crystallin in the adult human lens and has also been found to be induced in retinal pigment epithelium in models of macular degeneration. The gene for gS has been ablated in mouse, leading to disruption of normal fiber cell maturation. This is associated with abnormalities in key components of the architecture of the fiber cells, suggesting a functional role for crystallins in maintaining cell structure both in lens and elsewhere in the eye. Experiments are underway to measure directly the possible role of gS in assembly of key cellular structures. Examination of older knockout mice is also providing evidence for defects in other parts of the eye that may provide a model for aging. Collaborative studies using NMR structure analysis are shedding light on the processes of unfolding and amyloid formation in the mouse gS mutant Opj. This has wider significance for understanding how normally folded proteins can unfold and adopt other structures that can have serious consequences for cellular function.