利用诱导多能干细胞来了解视网膜纤毛病的发病机制并开发治疗方法。
Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies.
作者信息
Parfitt David A, Lane Amelia, Ramsden Conor, Jovanovic Katarina, Coffey Peter J, Hardcastle Alison J, Cheetham Michael E
机构信息
UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK.
出版信息
Biochem Soc Trans. 2016 Oct 15;44(5):1245-1251. doi: 10.1042/BST20160156.
Abstract
The photoreceptor cells in the retina have a highly specialised sensory cilium, the outer segment (OS), which is important for detecting light. Mutations in cilia-related genes often result in retinal degeneration. The ability to reprogramme human cells into induced pluripotent stem cells and then differentiate them into a wide range of different cell types has revolutionised our ability to study human disease. To date, however, the challenge of producing fully differentiated photoreceptors in vitro has limited the application of this technology in studying retinal degeneration. In this review, we will discuss recent advances in stem cell technology and photoreceptor differentiation. In particular, the development of photoreceptors with rudimentary OS that can be used to understand disease mechanisms and as an important model to test potential new therapies for inherited retinal ciliopathies.
摘要
视网膜中的光感受器细胞具有高度特化的感觉纤毛，即外段（OS），它对于检测光线很重要。纤毛相关基因的突变常常导致视网膜变性。将人类细胞重编程为诱导多能干细胞，然后将其分化为多种不同细胞类型的能力，彻底改变了我们研究人类疾病的能力。然而，迄今为止，在体外产生完全分化的光感受器这一挑战限制了该技术在研究视网膜变性中的应用。在这篇综述中，我们将讨论干细胞技术和光感受器分化方面的最新进展。特别是，具有原始外段的光感受器的发育，可用于理解疾病机制，并作为测试遗传性视网膜纤毛病潜在新疗法的重要模型。
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