据国外媒体报道，来自美国纽约州布法罗市、俄亥俄州克利夫兰市和俄克拉何马州的科学家使用基因疗法，改善具有视网膜色素变性(retinitis pigmentosa,RP)疾病的老鼠视力。这一研究结果表明，科学家在使盲人恢复视力的道路上取得了长足的进步。
据悉，《美国实验生物学学会联合会杂志》（The FASEB Journal）2010年4月刊上发表的一篇研究报告中，科学家详细阐述了利用合成的纳米颗粒，改善具有视网膜色素变性(retinitis pigmentosa,RP)疾病老鼠视力的过程。视网膜色素变性是视网膜光感受器细胞和色素上皮细胞变性，从而导致夜盲和进行性视野缺损的一组具有临床亚型的基因遗传性致盲眼病。
研究小组成员，俄克拉何马州奥克拉荷马大学健康科学中心细胞生物学系莱西博士和她的同事一起，研究了一组带有视网膜缓慢变性（retinal degeneration slow (Rds) ）基因的老鼠。莱西和她的同事对这些老鼠进行了三种不同类型的治疗方法：一种方法是用包含Rds基因的纳米颗粒来治疗，一种方法是用正常基因来治疗，还有一种方法是通过生理盐水来治疗。
实施三种不同类型的治疗方法后，研究人员将实验老鼠和其它具有视网膜色素变性或视网膜缓慢变性疾病老鼠进行比较，从而分析得出实验老鼠视网膜的功能和结构。研究人员发现，接受纳米颗粒基因疗法的老鼠，其视觉功能得到改善，具有明显愈合的迹象，而且这种效果到实验结束都还保持完好，而接受正常基因和生理盐水治疗的老鼠，其视力不断下降。上述实验结果表明，纳米颗粒是耐受性良好，并且是安全无副作用的治疗方法。
研究人员称，他们希望此研究结果可帮助治愈那些和视网膜色素变性、遗传性疾病和后天视网膜疾病等导致失明的疾病。
《美国实验生物学学会联合会杂志》杂志主编，杰拉尔· 德韦斯曼（Gerald Weissmann）说：“使盲人恢复视力曾经被称为奇迹。随着我们对进化、遗传学和纳米技术理解的加深，这种神奇的治疗方法将变得非常普遍。”(生物谷Bioon.com)
Science TM：用基因疗法来恢复视力
Transplantation：胚胎干细胞移植助患病实验鼠恢复视力
Nature：用基因疗法治疗先天视力缺陷
生物谷推荐原文出处：
The FASEB Journal. doi: 10.1096/fj.09-139147.
Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis pigmentosa
Xue Cai*, Shannon M. Conley*, Zack Nash*, Steven J. Fliesler,,, Mark J. Cooper|| and Muna I. Naash*,1
The purpose of the present study was to test the therapeutic efficiency and safety of compacted-DNA nanoparticle-mediated gene delivery into the subretinal space of a juvenile mouse model of retinitis pigmentosa. Nanoparticles containing the mouse opsin promoter and wild-type mouse Rds gene were injected subretinally into mice carrying a haploinsufficiency mutation in the retinal degeneration slow (rds+/–) gene at postnatal day (P)5 and 22. Control mice were either injected with saline, injected with uncompacted naked plasmid DNA carrying the Rds gene, or remained untreated. Rds mRNA levels peaked at postinjection day 2 to 7 (PI-2 to PI-7) for P5 injections, stabilized at levels 2-fold higher than in uninjected controls for both P5 and P22 injections, and remained elevated at the latest time point examined (PI-120). Rod function (measured by electroretinography) showed modest but statistically significant improvement compared with controls after both P5 and P22 injections. Cone function in nanoparticle-injected eyes reached wild-type levels for both ages of injections, indicating full prevention of cone degeneration. Ultrastructural examination at PI-120 revealed significant improvement in outer segment structures in P5 nanoparticle-injected eyes, while P22 injection had a modest structural improvement. There was no evidence of macrophage activation or induction of IL-6 or TNF- mRNA in P5 or P22 nanoparticle-dosed eyes at either PI-2 or PI-30. Thus, compacted-DNA nanoparticles can efficiently and safely drive gene expression in both mitotic and postmitotic photoreceptors and retard degeneration in this model. These findings, using a clinically relevant treatment paradigm, illustrate the potential for application of nanoparticle-based gene replacement therapy for treatment of human retinal degenerations.—Cai, X., Conley, S. M., Nash, Z., Fliesler, S. J., Cooper, M. J., Naash, M. I. Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis pigmentosa.
