Romero Zulema, Urbinati Fabrizia, Geiger Sabine, Cooper Aaron R, Wherley Jennifer, Kaufman Michael L, Hollis Roger P, de Assin Rafael Ruiz, Senadheera Shantha, Sahagian Arineh, Jin Xiangyang, Gellis Alyse, Wang Xiaoyan, Gjertson David, Deoliveira Satiro, Kempert Pamela, Shupien Sally, Abdel-Azim Hisham, Walters Mark C, Meiselman Herbert J, Wenby Rosalinda B, Gruber Theresa, Marder Victor, Coates Thomas D, Kohn Donald B
J Clin Invest. 2013 Jul 1;123(8):3317-30. doi: 10.1172/JCI67930.
Autologous hematopoietic stem cell gene therapy is an approach to treating sickle cell disease (SCD) patients that may result in lower morbidity than allogeneic transplantation. We examined the potential of a lentiviral vector (LV) (CCL-βAS3-FB) encoding a human hemoglobin (HBB) gene engineered to impede sickle hemoglobin polymerization (HBBAS3) to transduce human BM CD34+ cells from SCD donors and prevent sickling of red blood cells produced by in vitro differentiation. The CCL-βAS3-FB LV transduced BM CD34+ cells from either healthy or SCD donors at similar levels, based on quantitative PCR and colony-forming unit progenitor analysis. Consistent expression of HBBAS3 mRNA and HbAS3 protein compromised a fourth of the total β-globin-like transcripts and hemoglobin (Hb) tetramers. Upon deoxygenation, a lower percentage of HBBAS3-transduced red blood cells exhibited sickling compared with mock-transduced cells from sickle donors. Transduced BM CD34+ cells were transplanted into immunodeficient mice, and the human cells recovered after 2-3 months were cultured for erythroid differentiation, which showed levels of HBBAS3 mRNA similar to those seen in the CD34+ cells that were directly differentiated in vitro. These results demonstrate that the CCL-βAS3-FB LV is capable of efficient transfer and consistent expression of an effective anti-sickling β-globin gene in human SCD BM CD34+ progenitor cells, improving physiologic parameters of the resulting red blood cells.
自体造血干细胞基因治疗是一种治疗镰状细胞病(SCD)患者的方法,其发病率可能低于同种异体移植。我们研究了一种慢病毒载体(LV)(CCL-βAS3-FB)的潜力,该载体编码一种经过工程改造以阻止镰状血红蛋白聚合的人血红蛋白(HBB)基因(HBBAS3),用于转导来自SCD供体的人骨髓CD34+细胞,并防止体外分化产生的红细胞镰变。基于定量PCR和集落形成单位祖细胞分析,CCL-βAS3-FB LV以相似水平转导来自健康或SCD供体的骨髓CD34+细胞。HBBAS3 mRNA和HbAS3蛋白的持续表达占总β-珠蛋白样转录本和血红蛋白(Hb)四聚体的四分之一。脱氧后,与来自镰状供体的模拟转导细胞相比,HBBAS3转导的红细胞镰变的百分比更低。将转导的骨髓CD34+细胞移植到免疫缺陷小鼠中,2-3个月后恢复的人细胞进行红系分化培养,其HBBAS3 mRNA水平与直接在体外分化的CD34+细胞中观察到的水平相似。这些结果表明,CCL-βAS3-FB LV能够在人SCD骨髓CD34+祖细胞中有效转移并持续表达有效的抗镰变β-珠蛋白基因,改善所产生红细胞的生理参数。