Lack of collagen XVIII/endostatin results in eye abnormalities
Lack of collagen XVIII/endostatin results in eye abnormalities
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DOI：
10.1093/emboj/21.7.1535
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发表时间：
2002-04-02
期刊：
影响因子：
11.4
通讯作者：
Olsen, BR
中科院分区：
文献类型：
--
作者：
Fukai, N;Eklund, L;Olsen, BR
缺乏XVIII胶原蛋白及其蛋白水解产物内皮抑素的小鼠在出生后表现出沿着视网膜表面的玻璃体内血管的延迟退化，并且视网膜血管缺乏或异常生长。这表明 XVIII 胶原蛋白/内皮抑素对于眼睛正常血管形成至关重要。除后弹力层外，野生型眼睛的所有基底膜均显示带有抗胶原 XVIII 抗体的免疫金标记。在玻璃体中胶原原纤维与内界膜连接的部位进行标记，以及突变小鼠中玻璃体基质与内界膜的分离表明胶原蛋白 XVIII 对于将玻璃体胶原原纤维锚定到内界膜非常重要。这些发现为因 XVIII 胶原蛋白功能丧失突变引起的诺布洛赫综合征患者出现高度近视、玻璃体视网膜变性和视网膜脱离提供了解释。
Mice lacking collagen XVIII and its proteolytically derived product endostatin show delayed regression of blood vessels in the vitreous along the surface of the retina after birth and lack of or abnormal outgrowth of retinal vessels. This suggests that collagen XVIII/endostatin is critical for normal blood vessel formation in the eye. All basement membranes in wild-type eyes, except Descemet's membrane, showed immunogold labeling with antibodies against collagen XVIII. Labeling at sites where collagen fibrils in the vitreous are connected with the inner limiting membrane and separation of the vitreal matrix from the inner limiting membrane in mutant mice indicate that collagen XVIII is important for anchoring vitreal collagen fibrils to the inner limiting membrane. The findings provide an explanation for high myopia, vitreoretinal degeneration and retinal detachment seen in patients with Knobloch syndrome caused by loss-of-function mutations in collagen XVIII.