Regenerative Engineering Laboratory, Department of Textile Technology, Indian Institute of Technology, New Delhi, India.
Cornea & Refractive Surgery Services, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Drug Discov Today. 2019 Feb;24(2):403-416. doi: 10.1016/j.drudis.2018.10.017. Epub 2018 Nov 5.
Keratoconus (KC) is a bilateral corneal dystrophy and a multifactorial, multigenic disorder with an etiology involving a strong environmental component and complex inheritance patterns. The underlying pathophysiology of KC is poorly understood because of potential crosstalk between genetic-epigenetic variants possibly triggered by the environmental factors. Here, we decode the etiopathological basis of KC using genomic, transcriptomic, proteomic and metabolic approaches. The lack of relevant models that accurately imitate this condition has been particularly limiting in terms of the effective management of KC. Tissue-engineered in vitro models of KC could address this need and generate valuable insights into its etiopathology for the establishment of disease models to accelerate drug discovery.
圆锥角膜（KC）是一种双侧角膜营养不良，是一种多因素、多基因疾病，其病因涉及强烈的环境因素和复杂的遗传模式。由于遗传-表观遗传变异之间可能存在潜在的串扰，可能是由环境因素引发的，因此 KC 的潜在病理生理学机制理解得还不够透彻。在这里，我们使用基因组学、转录组学、蛋白质组学和代谢组学方法来解码 KC 的病因病理学基础。缺乏能够准确模拟这种情况的相关模型，这对于 KC 的有效管理来说是一个特别大的限制。KC 的组织工程体外模型可以满足这一需求，并为建立疾病模型以加速药物发现提供有价值的病因病理学见解。
