Department of Genetics, University College London Institute of Ophthalmology, London EC1V 9EL, United Kingdom.
Proc Natl Acad Sci U S A. 2013 Jan 2;110(1):354-9. doi: 10.1073/pnas.1212677110. Epub 2012 Dec 17.
Despite different aetiologies, age-related macular degeneration and most inherited retinal disorders culminate in the same final common pathway, the loss of photoreceptors. There are few treatments and none reverse the loss of vision. Photoreceptor replacement by transplantation is proposed as a broad treatment strategy applicable to all degenerations. Recently, we demonstrated restoration of vision following rod-photoreceptor transplantation into a mouse model of stationary night-blindness, raising the critical question of whether photoreceptor replacement is equally effective in different types and stages of degeneration. We present a comprehensive assessment of rod-photoreceptor transplantation across six murine models of inherited photoreceptor degeneration. Transplantation is feasible in all models examined but disease type has a major impact on outcome, as assessed both by the morphology and number of integrated rod-photoreceptors. Integration can increase (Prph2(+/Δ307)), decrease (Crb1(rd8/rd8), Gnat1(-/-), Rho(-/-)), or remain constant (PDE6β(rd1/rd1), Prph2(rd2/rd2)) with disease progression, depending upon the gene defect, with no correlation with severity. Robust integration is possible even in late-stage disease. Glial scarring and outer limiting membrane integrity, features that change with degeneration, significantly affect transplanted photoreceptor integration. Combined breakdown of these barriers markedly increases integration in a model with an intact outer limiting membrane, strong gliotic response, and otherwise poor transplantation outcome (Rho(-/-)), leading to an eightfold increase in integration and restoration of visual function. Thus, it is possible to achieve robust integration across a broad range of inherited retinopathies. Moreover, transplantation outcome can be improved by administering appropriate, tailored manipulations of the recipient environment.
尽管病因不同,但年龄相关性黄斑变性和大多数遗传性视网膜疾病最终都会导致相同的共同最终途径,即感光细胞的丧失。目前的治疗方法很少,而且没有一种方法可以逆转视力丧失。通过移植来替代感光细胞被提出作为一种广泛的治疗策略,适用于所有变性。最近,我们在静止性夜盲症的小鼠模型中进行了杆状光感受器移植后,证明了视力的恢复,这提出了一个关键问题,即感光细胞的替代在不同类型和阶段的变性中是否同样有效。我们对六种遗传性光感受器变性的小鼠模型进行了杆状光感受器移植的全面评估。在所有检查的模型中,移植都是可行的,但疾病类型对结果有重大影响,这可以通过整合的杆状光感受器的形态和数量来评估。整合可以增加(Prph2(+/Δ307))、减少(Crb1(rd8/rd8)、Gnat1(-/-)、Rho(-/-))或保持不变(PDE6β(rd1/rd1)、Prph2(rd2/rd2)),具体取决于基因缺陷,与严重程度无关。即使在晚期疾病中,也可以实现稳健的整合。神经胶质瘢痕和外节膜完整性,这些随变性而改变的特征,会显著影响移植的光感受器整合。这些屏障的综合破坏,在一个外节膜完整、胶质反应强烈、移植结果本来很差的模型(Rho(-/-))中,显著增加了整合,使整合增加了八倍,并恢复了视觉功能。因此,有可能在广泛的遗传性视网膜疾病中实现稳健的整合。此外,通过对受者环境进行适当的、有针对性的操作,可以改善移植的结果。