Zhou Y, Aran J, Gottesman M M, Pastan I
National Cancer Institute, Laboratory of Molecular Biology, National Institutes of Health, Bethesda, MD 20892, USA.
Hum Gene Ther. 1998 Feb 10;9(3):287-93. doi: 10.1089/hum.1998.9.3-287.
Current gene therapy protocols designed to treat adenosine deaminase (ADA) deficiency and other metabolic disorders suffer from low-efficiency delivery to target cells and a lack of long-term stability in expression of the therapeutic proteins. These problems may be resolved by use of an in vivo dominant selection. The multidrug transporter (MDR1) has been suggested as a useful selective marker for gene therapy. In this work, we co-expressed ADA and MDR1 cDNA in a retroviral vector using an internal ribosome entry site (IRES) from encephalomyocarditis virus. This system produced a bicistronic mRNA containing both ADA and MDR1, which enables co-expression of ADA and MDR1, and also allows the two proteins to be translated separately. After in vitro selection using a cytotoxic MDR1 substrate, vincristine, we demonstrated that functional ADA was co-expressed with MDR1 in proportion to the expression level of MDR1, whereas MDR1 expression was proportional to the stringency of the vincristine selection. Because the efficiency of IRES-dependent translation was much lower than that of cap-dependent translation in this system, we observed lower expression of the genes positioned after the IRES. This asymmetric expression caused a lower viral titer when MDR1 was placed downstream from the IRES, but it also provided a way of modulating the relative expression of ADA and MDR1. The retroviral system described in this work may serve as a useful tool to evaluate the strategies involving in vivo dominant selection for gene therapy of ADA-deficient patients.
目前旨在治疗腺苷脱氨酶(ADA)缺乏症和其他代谢紊乱的基因治疗方案存在向靶细胞递送效率低以及治疗性蛋白质表达缺乏长期稳定性的问题。这些问题可以通过使用体内显性选择来解决。多药转运蛋白(MDR1)已被认为是基因治疗中一种有用的选择标记。在这项工作中,我们使用来自脑心肌炎病毒的内部核糖体进入位点(IRES)在逆转录病毒载体中共表达ADA和MDR1 cDNA。该系统产生了一种包含ADA和MDR1的双顺反子mRNA,它能够使ADA和MDR1共表达,并且还允许这两种蛋白质分别翻译。在使用细胞毒性MDR1底物长春新碱进行体外选择后,我们证明功能性ADA与MDR1按MDR1的表达水平共表达,而MDR1的表达与长春新碱选择的严格程度成正比。由于在该系统中IRES依赖性翻译的效率远低于帽依赖性翻译的效率,我们观察到位于IRES之后的基因表达较低。当MDR1位于IRES下游时,这种不对称表达导致病毒滴度较低,但它也提供了一种调节ADA和MDR1相对表达的方法。这项工作中描述的逆转录病毒系统可能作为一种有用的工具,用于评估涉及对ADA缺乏症患者进行基因治疗的体内显性选择策略。