Herman B Wells Center for Pediatric Research, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Division of Cellular and Molecular Therapy, Department of Pediatrics, University of Florida, Gainesville, Florida, USA.
Hum Gene Ther. 2023 Apr;34(7-8):289-302. doi: 10.1089/hum.2022.176.
Capsid engineering of adeno-associated virus (AAV) can surmount current limitations to gene therapy such as broad tissue tropism, low transduction efficiency, or pre-existing neutralizing antibodies (NAb) that restrict patient eligibility. We previously generated an AAV3B combinatorial capsid library by integrating rational design and directed evolution with the aim of improving hepatotropism. A potential isolate, AAV3B-DE5, gained a selective proliferative advantage over five rounds of iterative selection in hepatocyte spheroid cultures. In this study, we reanalyzed our original dataset derived from the AAV3B combinatorial library and isolated variants from earlier (one to three) rounds of selection, with the assumption that variants with faster replication kinetics are not necessarily the most efficient transducers. We identified a potential candidate, AAV3B-V04, which demonstrated significantly enhanced transduction in mouse-passaged primary human hepatocytes as well as in humanized liver chimeric mice, compared to the parental AAV3B or the previously described isolate, AAV3B-DE5. Interestingly, the AAV3B-V04 capsid variant exhibited significantly reduced seroreactivity to pooled or individual human serum samples. Forty-four percent of serum samples with pre-existing NAbs to AAV3B had 5- to 20-fold lower reciprocal NAb titers to AAV3B-V04. AAV3B-V04 has only nine amino acid substitutions, clustered in variable region IV compared to AAV3B, indicating the importance of the loops at the top of the three-fold protrusions in determining both transduction efficiency and immunogenicity. This study highlights the effectiveness of rational design combined with targeted selection for enhanced AAV transduction via molecular evolution approaches. Our findings support the concept of limiting selection rounds to isolate the best transducing AAV3B variant without outgrowth of faster replicating candidates. We conclude that AAV3B-V04 provides advantages such as improved human hepatocyte tropism and immune evasion and propose its utility as a superior candidate for liver gene therapy.
腺相关病毒(AAV)衣壳工程可以克服基因治疗目前存在的局限性,如广泛的组织嗜性、低转导效率或预先存在的中和抗体(NAb),这些限制了患者的资格。我们之前通过整合合理设计和定向进化,生成了 AAV3B 组合衣壳文库,旨在提高肝靶向性。一个潜在的分离株 AAV3B-DE5 在肝细胞球体培养物中经过五轮迭代选择,获得了选择性增殖优势。在这项研究中,我们重新分析了我们最初从 AAV3B 组合文库中获得的原始数据集,并从早期(一轮至三轮)选择中分离出变体,假设复制动力学更快的变体不一定是最有效的转导物。我们鉴定出一个有潜力的候选物 AAV3B-V04,与亲本 AAV3B 或之前描述的分离株 AAV3B-DE5 相比,它在经过小鼠传代的原代人肝细胞以及人源化肝嵌合小鼠中显示出显著增强的转导。有趣的是,与 AAV3B 相比,AAV3B-V04 衣壳变体对混合或个体人血清样本的血清反应性显著降低。44%的对 AAV3B 有预先存在的 NAb 的血清样本对 AAV3B-V04 的抗体滴度降低了 5 至 20 倍。与 AAV3B 相比,AAV3B-V04 只有九个氨基酸取代,聚集在可变区 IV 中,表明在确定转导效率和免疫原性方面,三个三聚体突起顶部的环的重要性。这项研究强调了通过分子进化方法进行合理设计与靶向选择相结合,以增强 AAV 转导的有效性。我们的发现支持了这样一种概念,即在选择过程中限制轮数,以分离出最佳的转导 AAV3B 变体,而不会使更快复制的候选物过度生长。我们得出结论,AAV3B-V04 提供了改善的人肝细胞嗜性和免疫逃逸等优势,并提出将其用作肝脏基因治疗的优势候选物。