Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, 3501 Civic Center Boulevard, 5th Floor CTRB, Philadelphia, Pennsylvania 19104, USA.
Nat Rev Genet. 2011 May;12(5):341-55. doi: 10.1038/nrg2988.
In vivo gene replacement for the treatment of inherited disease is one of the most compelling concepts in modern medicine. Adeno-associated virus (AAV) vectors have been extensively used for this purpose and have shown therapeutic efficacy in a range of animal models. Successful translation to the clinic was initially slow, but long-term expression of donated genes at therapeutic levels has now been achieved in patients with inherited retinal disorders and haemophilia B. Recent exciting results have raised hopes for the treatment of many other diseases. As we discuss here, the prospects and challenges for AAV gene therapy are to a large extent dependent on the target tissue and the specific disease.
体内基因替代治疗是现代医学最引人注目的概念之一。腺相关病毒（AAV）载体已被广泛用于该目的，并在一系列动物模型中显示出治疗效果。最初，向临床的成功转化较为缓慢，但现已在遗传性视网膜疾病和乙型血友病患者中实现了捐赠基因的长期、治疗水平表达。最近令人兴奋的结果为许多其他疾病的治疗带来了希望。正如我们在这里讨论的，AAV 基因治疗的前景和挑战在很大程度上取决于靶组织和特定疾病。
