Stamataki Maria, Lüschow Julia, Schlumbohm Christina, Alawi Malik, Lunding Lars, Fuchs Eberhard, Trepel Martin, Schwaninger Markus, Körbelin Jakob
ENDomics Lab, Department of Oncology, Hematology and Bone Marrow Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
German Primate Center - Leibniz-Institute for Primatology, Göttingen, Germany.
Gene Ther. 2025 Aug 22. doi: 10.1038/s41434-025-00563-4.
The development of targeted vector systems for gene therapy has made impressive progress during the last decade. Promising vector candidates were identified by screening large pools of adeno-associated virus (AAV) mutants in small animal models. However, it became apparent that targeted AAV mutants isolated from rodents may not function in humans as the tropism of individual AAV mutants can differ between species. To identify novel vascular-targeted AAV capsid mutants suitable for treating human patients, we generated a set of AAV2 display peptide libraries and screened them in the common marmoset, a non-human primate. To evaluate the impact of different AAV library production methods, progress of the screening process was monitored by next generation sequencing. Particle distribution and enrichment was compared between different AAV libraries and selection rounds. We observed enrichment of AAV variants in the brain and other well-perfused organs (lung, heart, kidney) potentially mediated by high capsid affinity for the vascular endothelium in general. In vitro experiments on primary human microvascular endothelial cells isolated from a set of different organs (brain, heart, lung, liver, kidney and spleen) confirmed superior transduction of a selected AAV variant displaying the "DWP" amino acid sequence motif compared to natural AAV serotypes 1-9.
在过去十年中,用于基因治疗的靶向载体系统取得了令人瞩目的进展。通过在小动物模型中筛选大量腺相关病毒(AAV)突变体,确定了有前景的载体候选物。然而,很明显,从啮齿动物中分离出的靶向AAV突变体在人类中可能不起作用,因为个体AAV突变体的嗜性在不同物种之间可能存在差异。为了鉴定适合治疗人类患者的新型血管靶向AAV衣壳突变体,我们构建了一组AAV2展示肽库,并在普通狨猴(一种非人类灵长类动物)中进行筛选。为了评估不同AAV文库生产方法的影响,通过下一代测序监测筛选过程的进展。比较了不同AAV文库和选择轮次之间的颗粒分布和富集情况。我们观察到,一般来说,由于衣壳对血管内皮的高亲和力,大脑和其他灌注良好的器官(肺、心脏、肾脏)中AAV变体出现富集。对从一组不同器官(脑、心脏、肺、肝脏、肾脏和脾脏)分离的原代人微血管内皮细胞进行的体外实验证实,与天然AAV血清型1-9相比,展示“DWP”氨基酸序列基序的选定AAV变体具有更好的转导效果。