针对RPE65异构酶缺乏症的人类基因疗法可激活视觉的视黄醛循环,但视杆动力学缓慢。

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.

作者信息

Cideciyan Artur V, Aleman Tomas S, Boye Sanford L, Schwartz Sharon B, Kaushal Shalesh, Roman Alejandro J, Pang Ji-Jing, Sumaroka Alexander, Windsor Elizabeth A M, Wilson James M, Flotte Terence R, Fishman Gerald A, Heon Elise, Stone Edwin M, Byrne Barry J, Jacobson Samuel G, Hauswirth William W

机构信息

Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.

出版信息

Proc Natl Acad Sci U S A. 2008 Sep 30;105(39):15112-7. doi: 10.1073/pnas.0807027105. Epub 2008 Sep 22.

Abstract

The RPE65 gene encodes the isomerase of the retinoid cycle, the enzymatic pathway that underlies mammalian vision. Mutations in RPE65 disrupt the retinoid cycle and cause a congenital human blindness known as Leber congenital amaurosis (LCA). We used adeno-associated virus-2-based RPE65 gene replacement therapy to treat three young adults with RPE65-LCA and measured their vision before and up to 90 days after the intervention. All three patients showed a statistically significant increase in visual sensitivity at 30 days after treatment localized to retinal areas that had received the vector. There were no changes in the effect between 30 and 90 days. Both cone- and rod-photoreceptor-based vision could be demonstrated in treated areas. For cones, there were increases of up to 1.7 log units (i.e., 50 fold); and for rods, there were gains of up to 4.8 log units (i.e., 63,000 fold). To assess what fraction of full vision potential was restored by gene therapy, we related the degree of light sensitivity to the level of remaining photoreceptors within the treatment area. We found that the intervention could overcome nearly all of the loss of light sensitivity resulting from the biochemical blockade. However, this reconstituted retinoid cycle was not completely normal. Resensitization kinetics of the newly treated rods were remarkably slow and required 8 h or more for the attainment of full sensitivity, compared with <1 h in normal eyes. Cone-sensitivity recovery time was rapid. These results demonstrate dramatic, albeit imperfect, recovery of rod- and cone-photoreceptor-based vision after RPE65 gene therapy.

摘要

RPE65基因编码视黄醛循环异构酶,这是哺乳动物视觉所依赖的酶促途径。RPE65基因的突变会破坏视黄醛循环,导致一种称为莱伯先天性黑矇(LCA)的先天性人类失明。我们使用基于腺相关病毒2的RPE65基因替代疗法治疗了三名患有RPE65-LCA的年轻成年人,并在干预前和干预后长达90天测量了他们的视力。所有三名患者在治疗后30天视觉敏感度均有统计学显著提高,提高部位局限于接受载体的视网膜区域。30天至90天之间效果没有变化。在治疗区域,基于视锥细胞和视杆细胞的视觉都可以得到证实。对于视锥细胞,敏感度提高了高达1.7对数单位(即50倍);对于视杆细胞,敏感度提高了高达4.8对数单位(即63000倍)。为了评估基因疗法恢复的全视力潜能比例,我们将光敏感度程度与治疗区域内剩余光感受器水平相关联。我们发现该干预几乎可以克服生化阻断导致的所有光敏感度丧失。然而,这种重建的视黄醛循环并不完全正常。新治疗的视杆细胞的重新致敏动力学非常缓慢,达到完全敏感度需要8小时或更长时间,而正常眼睛则不到1小时。视锥细胞敏感度恢复时间很快。这些结果表明,RPE65基因治疗后,基于视杆细胞和视锥细胞的视觉有显著恢复,尽管并不完美。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索