Maturana Carola J, Verpeut Jessica L, Pisano Thomas J, Dhanerawala Zahra M, Esteves Andrew, Enquist Lynn W, Engel Esteban A
Princeton Neuroscience Institute, Princeton University, Princeton, NJ 08544, USA.
Department of Molecular Biology, Princeton University, Princeton, NJ 08544, USA.
Mol Ther Methods Clin Dev. 2020 Apr 14;17:843-857. doi: 10.1016/j.omtm.2020.04.004. eCollection 2020 Jun 12.
Recombinant adeno-associated viruses (rAAVs) are used as gene therapy vectors to treat central nervous system (CNS) diseases. Despite their safety and broad tropism, important issues need to be corrected such as the limited payload capacity and the lack of small gene promoters providing long-term, pan-neuronal transgene expression in the CNS. Commonly used gene promoters are relatively large and can be repressed a few months after CNS transduction, risking the long-term performance of single-dose gene therapy applications. We used a whole-CNS screening approach based on systemic delivery of AAV-PHP.eB, iDisco+ tissue-clearing and light-sheet microscopy to identify three small latency-associated promoters (LAPs) from the herpesvirus pseudorabies virus (PRV). These promoters are LAP1 (404 bp), LAP2 (498 bp), and LAP1_2 (880 bp). They drive chronic transcription of the virus-encoded latency-associated transcript (LAT) during productive and latent phases of PRV infection. We observed stable, pan-neuronal transgene transcription and translation from AAV-LAPs in the CNS for 6 months post AAV transduction. In several CNS areas, the number of cells expressing the transgene was higher for LAP2 than the large conventional EF1α promoter (1,264 bp). Our data suggest that the LAPs are suitable candidates for viral vector-based CNS gene therapies requiring chronic transgene expression after one-time viral-vector administration.
重组腺相关病毒(rAAVs)被用作基因治疗载体来治疗中枢神经系统(CNS)疾病。尽管它们具有安全性和广泛的嗜性,但仍有一些重要问题需要解决,例如有限的有效载荷能力以及缺乏能在中枢神经系统中提供长期、全神经元转基因表达的小基因启动子。常用的基因启动子相对较大,在中枢神经系统转导后几个月可能会受到抑制,这会危及单剂量基因治疗应用的长期效果。我们采用了一种基于AAV-PHP.eB全身递送、iDisco+组织清除和光片显微镜的全中枢神经系统筛选方法,从疱疹病毒伪狂犬病病毒(PRV)中鉴定出三个小的潜伏期相关启动子(LAPs)。这些启动子分别是LAP1(404 bp)、LAP2(498 bp)和LAP1_2(880 bp)。它们在PRV感染的增殖期和潜伏期驱动病毒编码的潜伏期相关转录本(LAT)的慢性转录。我们观察到,在AAV转导后6个月,中枢神经系统中来自AAV-LAPs的转基因转录和翻译稳定且全神经元表达。在几个中枢神经系统区域,LAP2驱动的转基因表达细胞数量高于传统的大的EF1α启动子(1264 bp)。我们的数据表明,对于一次性给予病毒载体后需要慢性转基因表达的基于病毒载体的中枢神经系统基因治疗,LAPs是合适的候选者。