Miyazaki M, Ikeda Y, Yonemitsu Y, Goto Y, Sakamoto T, Tabata T, Ueda Y, Hasegawa M, Tobimatsu S, Ishibashi T, Sueishi K
Division of Pathophysiology and Experimental Pathology, Department of Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Gene Ther. 2003 Aug;10(17):1503-11. doi: 10.1038/sj.gt.3302028.
Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal diseases resulting in adult blindness caused by mutations of various genes. Although it is difficult to cure the blindness that results from these diseases, delaying the disease progression may be of great benefit, since the majority of RP diseases are seen in middle age or later. To test a gene therapy strategy for RP using a neurotrophic factor gene, we assessed the effect of simian lentivirus (SIV)-mediated subretinal gene transfer of pigment epithelium-derived factor (PEDF), a potent neurotrophic factor, during the disease progression in Royal College of Surgeons (RCS) rats, a well-accepted animal model of RP. Regional gene transfer via SIV into the peripheral subretinal space at the nasal hemisphere was performed in all animals to monitor site-specific transgene expression as well as the therapeutic effect in each retina. Gene transfer of lacZ and PEDF was observed in the regional pigment epithelium corresponding to the regional gene transfer. Histologically, PEDF gene transfer significantly protected the loss of photoreceptor cells (PCs) corresponding to the regions of the gene transfer, compared to those of control groups during the course of the experiment. The antiapoptotic effect of PEDF on PCs is likely to be a related mechanism, because a significant reduction of terminal dUTP-nicked end labeling-positive PC numbers was found in PEDF-treated eyes compared to those of the control group (P<0.05). PEDF-treated eyes also retained a significant sensitivity to light flash during the experimental course. These findings clearly show that neuroprotective gene therapy using PEDF can protect retinal degeneration and functional defects in individuals with RP.
视网膜色素变性(RP)是一组遗传性视网膜疾病的异质性群体,由各种基因突变导致成人失明。尽管很难治愈这些疾病导致的失明,但延缓疾病进展可能会带来很大益处,因为大多数RP疾病在中年或更晚才出现。为了测试使用神经营养因子基因治疗RP的基因治疗策略,我们评估了猿猴慢病毒(SIV)介导的色素上皮衍生因子(PEDF,一种有效的神经营养因子)在皇家外科学院(RCS)大鼠(一种公认的RP动物模型)疾病进展过程中的视网膜下基因转移效果。在所有动物中,通过SIV将区域基因转移到鼻侧半球的周边视网膜下间隙,以监测位点特异性转基因表达以及每个视网膜中的治疗效果。在与区域基因转移相对应的区域色素上皮中观察到了lacZ和PEDF的基因转移。组织学上,与对照组相比,在实验过程中,PEDF基因转移显著保护了与基因转移区域相对应的光感受器细胞(PCs)的丢失。PEDF对PCs的抗凋亡作用可能是一种相关机制,因为与对照组相比,在PEDF治疗的眼中发现末端脱氧尿苷三磷酸缺口末端标记阳性PC数量显著减少(P<0.05)。在实验过程中,PEDF治疗的眼睛对闪光也保持了显著的敏感性。这些发现清楚地表明,使用PEDF的神经保护基因治疗可以保护RP患者的视网膜变性和功能缺陷。