Department of Pediatrics and Powell Gene Therapy Center, University of Florida, Gainesville, FL 32610, USA.
Hum Gene Ther. 2012 Aug;23(8):808-15. doi: 10.1089/hum.2012.140.
Lysosomal storage diseases are a group of rare inborn errors of metabolism resulting from deficiency in normal lysosomal function. These diseases are characterized by progressive accumulation of storage material within the lysosomes of affected cells, ultimately leading to cellular dysfunction. Multiple tissues ranging from musculoskeletal and visceral to tissues of the central nervous system are typically involved in disease pathology. Since the advent of enzyme replacement therapy (ERT) to manage some LSDs, general clinical outcomes have significantly improved; however, treatment with infused protein is lifelong and continued disease progression is still evident in patients. Viral gene therapy may provide a viable alternative or adjunctive therapy to current management strategies for LSDs. In this review, we discuss the various viral vector systems that have been developed and some of the strategy designs for the treatment of LSDs.
溶酶体贮积症是一组由于正常溶酶体功能缺陷引起的罕见的先天性代谢错误。这些疾病的特征是受影响细胞的溶酶体中储存物质的进行性积累，最终导致细胞功能障碍。从肌肉骨骼和内脏到中枢神经系统的多种组织通常都涉及疾病的病理过程。自从酶替代疗法 (ERT) 用于治疗某些 LSD 以来，总体临床结果有了显著改善；然而，输注蛋白的治疗是终身的，并且在患者中仍然明显存在持续的疾病进展。病毒基因治疗可能为 LSD 的现有管理策略提供可行的替代或辅助治疗方法。在这篇综述中，我们讨论了已经开发的各种病毒载体系统以及一些用于治疗 LSD 的策略设计。
