Fehrman Rachel L, Chern Kristina J, Stoltz Kyle P, Lipinski Daniel M
Department of Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, WI, 53226, USA.
Department of Microbiology and Immunology, Medical College of Wisconsin, WI, 53226, USA.
Exp Eye Res. 2025 Feb;251:110223. doi: 10.1016/j.exer.2024.110223. Epub 2024 Dec 20.
Genome or prime editing has become a promising tool for the treatment of hereditary disorders affecting the inner retina, such as dominant optic neuropathies. In vivo delivery of gene editors, such as Cas9, is typically achieved using recombinant adeno-associated virus (rAAV) vectors, which have a broad range of cellular tropisms and are well tolerated following intravitreal administration. Owing to the large size of gene editing constructs and the limited carrying capacity of rAAV (<5.1 kb) it is unfortunately usually necessary to split therapeutic transgene cassettes across multiple co-administered vector genomes. While the efficiency with which multiple vector genomes recombine following cellular entry has been studied extensively, another potentially limiting factor is the likelihood of target cells (e.g. retinal ganglion cells) receiving two or more vectors containing genomes that correspond to the full-length expression cassette when recombined. In this study we examine the efficiency with which two or more vector genomes transduce various retinal cell types following intravitreal administration. rAAV2/2[MAX] vectors expressing individual fluorescent reporters (GFP, BFP or mCherry) were co-injected intravitreally singly or in combination (dual or triple), allowing the extent of co-transduction to be assessed through multimodal in vivo imaging, electroretinography, flow cytometry and post-mortem histology. We find that intravitreal co-administration of vectors containing multiple genomes is well tolerated - with no observed alterations in retinal thickness or ERG amplitudes - but that co-transduction efficiency decreases significantly with increasing genome number. As such co-transduction of multiple vectors may be a major bottleneck limiting gene editing of inherited disorders affecting the inner retina.
基因组编辑或碱基编辑已成为治疗影响视网膜内层的遗传性疾病(如显性视神经病变)的一种有前景的工具。基因编辑器(如Cas9)的体内递送通常使用重组腺相关病毒(rAAV)载体来实现,rAAV载体具有广泛的细胞嗜性,玻璃体内给药后耐受性良好。由于基因编辑构建体的尺寸较大以及rAAV的携带能力有限(<5.1 kb),不幸的是通常需要将治疗性转基因盒分散在多个共同给药的载体基因组中。虽然细胞进入后多个载体基因组重组的效率已得到广泛研究,但另一个潜在的限制因素是靶细胞(如视网膜神经节细胞)在重组时接收两个或更多个包含与全长表达盒相对应基因组的载体的可能性。在本研究中,我们研究了玻璃体内给药后两个或更多个载体基因组转导各种视网膜细胞类型的效率。将表达单个荧光报告基因(绿色荧光蛋白、蓝色荧光蛋白或mCherry)的rAAV2/2[MAX]载体单独或联合(双重或三重)玻璃体内共注射,通过多模态体内成像、视网膜电图、流式细胞术和死后组织学来评估共转导的程度。我们发现,玻璃体内共同给药包含多个基因组的载体耐受性良好——未观察到视网膜厚度或视网膜电图振幅有改变——但共转导效率随着基因组数量的增加而显著降低。因此,多个载体的共转导可能是限制影响视网膜内层的遗传性疾病基因编辑的一个主要瓶颈。