Kaiser Robert A, Mao Shennen A, Glorioso Jaime, Amiot Bruce, Nicolas Clara T, Allen Kari L, Du Zeji, VanLith Caitlin J, Hickey Raymond D, Nyberg Scott L, Lillegard Joseph B
Department of Surgery, Mayo Clinic; Midwest Fetal Care Center, Children's Hospitals and Clinics of Minnesota.
Department of Surgery, Mayo Clinic.
J Vis Exp. 2018 Nov 4(141). doi: 10.3791/58399.
Gene therapy is an ideal choice to cure many inborn errors of metabolism of the liver. Ex-vivo, lentiviral vectors have been used successfully in the treatment of many hematopoietic diseases in humans, as their use offers stable transgene expression due to the vector's ability to integrate into the host genome. This method demonstrates the application of ex vivo gene therapy of hepatocytes to a large animal model of hereditary tyrosinemia type I. This process consists of 1) isolation of primary hepatocytes from the autologous donor/recipient animal, 2) ex vivo gene delivery via hepatocyte transduction with a lentiviral vector, and 3) autologous transplant of corrected hepatocytes via portal vein injection. Success of the method generally relies upon efficient and sterile removal of the liver resection, careful handling of the excised specimen for isolation of viable hepatocytes sufficient for re-engrafting, high-percentage transduction of the isolated cells, and aseptic surgical procedures throughout to prevent infection. Technical failure at any of these steps will result in low yield of viable transduced hepatocytes for autologous transplant or infection of the donor/recipient animal. The pig model of human type 1 hereditary tyrosinemia (HT-1) chosen for this approach is uniquely amenable to such a method, as even a small percentage of engraftment of corrected cells will lead to repopulation of the liver with healthy cells based on a powerful selective advantage over native-diseased hepatocytes. Although this growth selection will not be true for all indications, this approach is a foundation for expansion into other indications and allows for manipulation of this environment to address additional diseases, both within the liver and beyond, while controlling for exposure to viral vector and opportunity for off-target toxicity and tumorigenicity.
基因治疗是治愈许多肝脏先天性代谢缺陷的理想选择。在体外,慢病毒载体已成功用于治疗人类的多种血液系统疾病,因为其能够整合到宿主基因组中,从而实现稳定的转基因表达。本方法展示了将肝细胞的体外基因治疗应用于I型遗传性酪氨酸血症的大型动物模型。该过程包括:1)从自体供体/受体动物中分离原代肝细胞;2)通过慢病毒载体转导肝细胞进行体外基因递送;3)通过门静脉注射对校正后的肝细胞进行自体移植。该方法的成功通常依赖于高效无菌的肝切除、小心处理切除标本以分离出足以重新植入的活肝细胞、分离细胞的高转导率以及全程无菌手术操作以防止感染。这些步骤中任何一步出现技术故障都将导致用于自体移植的活转导肝细胞产量低或供体/受体动物感染。选择用于此方法的人类I型遗传性酪氨酸血症(HT-1)猪模型特别适合这种方法,因为即使校正细胞的一小部分植入,基于相对于天然患病肝细胞的强大选择优势,也将导致肝脏被健康细胞重新填充。尽管这种生长选择并非适用于所有适应症,但该方法是扩展到其他适应症的基础,并允许在控制病毒载体暴露以及脱靶毒性和致瘤性风险的同时,通过操纵这种环境来治疗肝脏内外的其他疾病。