腺相关病毒介导的基因疗法在溶酶体贮积症中的应用

Application of adeno-associated virus-mediated gene therapy in lysosomal storage diseases

摘要:

溶酶体贮积症（lysosomal storage disorders，LSDs）是一组由溶酶体酶或功能相关蛋白缺陷所致的单基因遗传代谢性疾病。临床治疗以酶替代疗法为主，但该疗法对有神经系统症状的LSDs患者疗效较差。随着多组学、测序技术和生物工程学的快速发展，基因治疗已在LSDs患者中开展。腺相关病毒（adeno-associated virus，AAV）作为基因治疗的载体之一，在治疗遗传代谢性等疾病中具有较好的前景。越来越多的研究表明，AAV介导的基因治疗在LSDs中有效。该文就其在LSDs中的应用作一综述。

Abstract:

Lysosomal storage disorders (LSDs) are a group of single-gene inherited metabolic diseases caused by defects in lysosomal enzymes or function-related proteins. Enzyme replacement therapy is the main treatment method in clinical practice, but it has a poor effect in patients with neurological symptoms. With the rapid development of multi-omics, sequencing technology, and bioengineering, gene therapy has been applied in patients with LSDs. As one of the vectors of gene therapy, adeno-associated virus (AAV) has good prospects in the treatment of genetic and metabolic diseases. More and more studies have shown that AAV-mediated gene therapy is effective in LSDs. This article reviews the application of AAV-mediated gene therapy in LSDs.