1 Telethon Institute of Genetics and Medicine (TIGEM) , Pozzuoli, Italy .
2 Department of Precision Medicine, University of Campania Luigi Vanvitelli , Naples, Italy .
Hum Gene Ther. 2018 Aug;29(8):886-901. doi: 10.1089/hum.2017.220. Epub 2018 Jul 5.
Retinal gene therapy based on adeno-associated viral (AAV) vectors is safe and efficient in humans. The low intrinsic DNA transfer capacity of AAV has been expanded by dual vectors where a large expression cassette is split in two halves independently packaged in two AAV vectors. Dual AAV transduction efficiency, however, is greatly reduced compared to that obtained with a single vector. As AAV intracellular trafficking and processing are negatively affected by phosphorylation, this study set to identify kinase inhibitors that can increase dual AAV vector transduction. By high-throughput screening of a kinase inhibitors library, three compounds were identified that increase AAV transduction in vitro, one of which has a higher effect on dual than on single AAV vectors. Importantly, the transduction enhancement is exerted on various AAV serotypes and is not transgene dependent. As kinase inhibitors are promiscuous, siRNA-mediated silencing of targeted kinases was performed, and AURKA and B, PLK1, and PTK2 were among those involved in the increase of AAV transduction levels. The study shows that kinase inhibitor administration reduces AAV serotype 2 (AAV2) capsid phosphorylation and increases the activity of DNA-repair pathways involved in AAV DNA processing. Importantly, the kinase inhibitor PF-00562271 improves dual AAV8 transduction in photoreceptors following sub-retinal delivery in mice. The study identifies kinase inhibitors that increase dual and single AAV transduction by modulating AAV entry and post-entry steps.
腺相关病毒(AAV)载体的视网膜基因治疗在人类中是安全有效的。AAV 的内在 DNA 转移能力较低,通过双载体得以扩展,其中大的表达盒被分成两半,独立包装在两个 AAV 载体中。然而,与单个载体相比,双 AAV 的转导效率大大降低。由于 AAV 的细胞内运输和加工受到磷酸化的负面影响,本研究旨在确定可以增加双 AAV 载体转导的激酶抑制剂。通过对激酶抑制剂文库进行高通量筛选,鉴定出三种可增加体外 AAV 转导的化合物,其中一种对双 AAV 载体的作用高于单 AAV 载体。重要的是,这种转导增强作用适用于各种 AAV 血清型,并且不依赖于转基因。由于激酶抑制剂具有广泛的作用,因此进行了靶向激酶的 siRNA 介导沉默,发现 AURKA 和 B、PLK1 和 PTK2 等激酶参与了 AAV 转导水平的提高。该研究表明,激酶抑制剂的给药可降低 AAV 血清型 2(AAV2)衣壳的磷酸化,并增加参与 AAV DNA 加工的 DNA 修复途径的活性。重要的是,激酶抑制剂 PF-00562271 可改善亚视网膜递送至小鼠后双 AAV8 对光感受器的转导。该研究确定了通过调节 AAV 进入和进入后步骤来增加双 AAV 和单 AAV 转导的激酶抑制剂。