Elastic fibres provide tissues with elasticity and flexibility. In the healthy human cornea, elastic fibres are limited to the posterior region of the peripheral stroma, but their specific functional role remains elusive. Here, we examine the physical and structural characteristics of the cornea during development in the mgΔloxPneo dominant-negative mouse model for Marfan syndrome, in which the physiological extracellular matrix of its elastic-fibre rich tissues is disrupted by the presence of a dysfunctional fibrillin-1 glycoprotein. Optical coherence tomography demonstrated a reduced corneal thickness in the mutant compared to wild type mice from embryonic day 16.5 until adulthood. X-ray scattering and electron microscopy revealed a disruption to both the elastic fibre and collagen fibril ultrastructure in the knockout mice, as well as abnormally low levels of the proteoglycan decorin. It is suggested that these alterations might be a result of increased transforming growth factor beta signalling. To conclude, this study has demonstrated corneal structure and ultrastructure to be altered when fibrillin-1 is disrupted and has provided insights into the role of fibrillin-1 in developing a functional cornea.

中文翻译：

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马凡氏综合征小鼠模型的角膜发育异常。

弹性纤维为组织提供弹性和柔韧性。在健康的人角膜中，弹性纤维仅限于周围基质的后部区域，但其具体功能作用仍然难以捉摸。在这里，我们检查了马凡氏综合征的mgΔloxPneo显性负小鼠模型中角膜在发育过程中的物理和结构特征，在该模型中，其功能丰富的原纤维蛋白1的存在会破坏其弹性纤维丰富组织的生理细胞外基质糖蛋白。从胚胎第16.5天到成年，与野生型小鼠相比，光学相干断层扫描显示突变体的角膜厚度降低。X射线散射和电子显微镜显示，基因敲除小鼠的弹性纤维和胶原原纤维超微结构均受到破坏，以及异常低水平的蛋白聚糖核心蛋白聚糖。建议这些改变可能是转化生长因子β信号转导增加的结果。总而言之，这项研究表明当原纤维蛋白1被破坏时角膜结构和超微结构会发生改变，并提供了原纤维蛋白1在发展功能性角膜中的作用的见解。