Suppr超能文献

遗传性肝病的基因治疗:添加还是编辑。

Gene Therapy for Inherited Liver Disease: To Add or to Edit.

作者信息

Chen Yue, van Til Niek P, Bosma Piter J

机构信息

Amsterdam University Medical Center, Tytgat Institute for Liver and Intestinal Research, AG&M, University of Amsterdam, Meibergdreef 69-71, 1105 BK Amsterdam, The Netherlands.

Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

出版信息

Int J Mol Sci. 2024 Nov 21;25(23):12514. doi: 10.3390/ijms252312514.

Abstract

Patients suffering from an inherited severe liver disorder require lifelong treatment to prevent premature death. Until recently, the only curative treatment option was liver transplantation, which requires lifelong immune suppression. Now, liver-directed gene therapy, which is a much less invasive procedure, has become a market-approved treatment for hemophilia A and B. This may pave the way for it to become the treatment of choice for many other recessive inherited liver disorders with loss-of-function mutations. Inherited liver disease with toxic-gain-of-function or intrinsic hepatocyte damage may require alternative applications, such as integrating vectors or genome editing technologies, that can provide permanent or specific modification of the genome. We present an overview of currently available gene therapy strategies, i.e., gene supplementation, gene editing, and gene repair investigated in preclinical and clinical studies to treat inherited severe liver disorders. The advantages and limitations of these gene therapy applications are discussed in relation to the underlying disease mechanism.

摘要

患有遗传性严重肝脏疾病的患者需要终身治疗以预防过早死亡。直到最近,唯一的治愈性治疗选择是肝移植,这需要终身免疫抑制。现在,肝脏定向基因治疗,这是一种侵入性小得多的程序,已成为市场批准的治疗甲型和乙型血友病的方法。这可能为其成为许多其他具有功能丧失突变的隐性遗传性肝脏疾病的首选治疗方法铺平道路。具有毒性功能获得或内在肝细胞损伤的遗传性肝病可能需要替代应用,例如整合载体或基因组编辑技术,这些技术可以对基因组进行永久或特定的修饰。我们概述了目前可用的基因治疗策略,即基因补充、基因编辑和基因修复,这些策略在临床前和临床研究中用于治疗遗传性严重肝脏疾病。这些基因治疗应用的优点和局限性根据潜在的疾病机制进行了讨论。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cef/11640881/10f4cd5fc392/ijms-25-12514-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验