Zhang Xintao, Anthony Bui, Chai Zheng, Lee Dobbins Amanda, Sutton Roger Bryan, Li Chengwen
Gene Therapy Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.
Department of Cell Physiology and Molecular Biophysics, Texas Tech University Health Sciences Center, Lubbock, TX, 79430, USA.
Biomaterials. 2020 May;241:119906. doi: 10.1016/j.biomaterials.2020.119906. Epub 2020 Feb 21.
The recombinant adeno-associated virus (rAAV) vector has been successfully employed in clinical trials for patients with blindness and bleeding diseases as well as neuromuscular disorders. To date, it remains a major challenge to achieve higher transduction efficiency with a lower dose of rAAV vector. Our previous studies have demonstrated that serum proteins are able to directly interact with AAV virions for transduction enhancement. Herein, we explored the effect of the FerA domains, which are derived from ferlin proteins and possess membrane-fusion activity, on AAV transduction. Our results show that FerA domains from dysferlin, myoferlin, and otoferlin proteins are able to directly interact with AAV vectors and enhance AAV transduction in vitro and in mice through either intravenous or intramuscular injections. The enhanced AAV transduction induced by human/mouse FerA domains is achieved in various cell lines and in mice regardless of AAV serotypes. Mechanism studies demonstrated that the FerA domains could effectively enhance the ability of AAV vectors to bind to target cells and cross the vascular barrier. Additionally, FerA domains slow down the blood clearance of AAV. Systemic administration of AAV8/hFIX-FerA complex induced approximate 4-fold more human coagulation factor IX expression and improved hemostasis in hemophilia B mice than that of AAV8/hFIX. Collectively, we show, for the first time, that multiple FerA domains could be tethered on the AAV capsid and enhance widespread tissue distribution in an AAV serotypes-independent manner. This approach therefore holds a promise for future clinical application.
重组腺相关病毒(rAAV)载体已成功应用于针对失明、出血性疾病以及神经肌肉疾病患者的临床试验。迄今为止,以较低剂量的rAAV载体实现更高的转导效率仍然是一项重大挑战。我们之前的研究表明,血清蛋白能够直接与AAV病毒粒子相互作用以增强转导。在此,我们探究了源自ferlin蛋白并具有膜融合活性的FerA结构域对AAV转导的影响。我们的结果表明,dysferlin、myoferlin和otoferlin蛋白的FerA结构域能够直接与AAV载体相互作用,并通过静脉注射或肌肉注射在体外和小鼠体内增强AAV转导。人/小鼠FerA结构域诱导的AAV转导增强在各种细胞系和小鼠中均能实现,且与AAV血清型无关。机制研究表明,FerA结构域可有效增强AAV载体与靶细胞结合并穿越血管屏障的能力。此外,FerA结构域减缓了AAV的血液清除。与AAV8/hFIX相比,全身给予AAV8/hFIX-FerA复合物在血友病B小鼠中诱导的人凝血因子IX表达增加了约4倍,并改善了止血效果。总体而言,我们首次表明多个FerA结构域可连接到AAV衣壳上,并以不依赖AAV血清型的方式增强广泛的组织分布。因此,这种方法在未来临床应用中具有前景。