Giacalone Joseph C, Wiley Luke A, Burnight Erin R, Songstad Allison E, Mullins Robert F, Stone Edwin M, Tucker Budd A
Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa, USA.
Stem Cells Transl Med. 2016 Feb;5(2):132-40. doi: 10.5966/sctm.2015-0206. Epub 2015 Dec 18.
Whether we are driving to work or spending time with loved ones, we depend on our sense of vision to interact with the world around us. Therefore, it is understandable why blindness for many is feared above death itself. Heritable diseases of the retina, such as glaucoma, age-related macular degeneration, and retinitis pigmentosa, are major causes of blindness worldwide. The recent success of gene augmentation trials for the treatment of RPE65-associated Leber congenital amaurosis has underscored the need for model systems that accurately recapitulate disease. With the advent of patient-specific induced pluripotent stem cells (iPSCs), researchers are now able to obtain disease-specific cell types that would otherwise be unavailable for molecular analysis. In the present review, we discuss how the iPSC technology is being used to confirm the pathogenesis of novel genetic variants, interrogate the pathophysiology of disease, and accelerate the development of patient-centered treatments. Significance: Stem cell technology has created the opportunity to advance treatments for multiple forms of blindness. Researchers are now able to use a person's cells to generate tissues found in the eye. This technology can be used to elucidate the genetic causes of disease and develop treatment strategies. In the present review, how stem cell technology is being used to interrogate the pathophysiology of eye disease and accelerate the development of patient-centered treatments is discussed.
无论是开车去上班还是与亲人共度时光,我们都依靠视觉与周围的世界互动。因此,对许多人来说,失明比死亡本身更可怕,这是可以理解的。视网膜遗传性疾病,如青光眼、年龄相关性黄斑变性和色素性视网膜炎,是全球失明的主要原因。最近用于治疗与RPE65相关的莱伯先天性黑蒙的基因增强试验的成功凸显了对能准确重现疾病的模型系统的需求。随着患者特异性诱导多能干细胞(iPSC)的出现,研究人员现在能够获得疾病特异性细胞类型,否则这些细胞类型将无法用于分子分析。在本综述中,我们讨论了iPSC技术如何被用于确认新的基因变异的发病机制、探究疾病的病理生理学以及加速以患者为中心的治疗方法的开发。意义:干细胞技术为推进多种形式失明的治疗创造了机会。研究人员现在能够利用一个人的细胞来生成眼部组织。这项技术可用于阐明疾病的遗传原因并制定治疗策略。在本综述中,讨论了干细胞技术如何被用于探究眼部疾病的病理生理学以及加速以患者为中心的治疗方法的开发。