Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.
FEBS Lett. 2024 Oct;598(19):2372-2384. doi: 10.1002/1873-3468.14957. Epub 2024 Jun 17.
Inherited metabolic disorders (IMDs) are a growing group of genetic diseases caused by defects in enzymes that mediate cellular metabolism, often resulting in the accumulation of toxic substrates. The liver is a highly metabolically active organ that hosts several thousands of chemical reactions. As such, it is an organ frequently affected in IMDs. In this article, we review current approaches for liver-directed gene-based therapy aimed at metabolite detoxification in a variety of IMDs. Moreover, we discuss current unresolved challenges in gene-based therapies for IMDs.
遗传性代谢紊乱（IMD）是一组由介导细胞代谢的酶缺陷引起的不断增加的遗传性疾病，通常导致毒性底物的积累。肝脏是一个高度代谢活跃的器官，容纳了数千种化学反应。因此，它是 IMD 经常受累的器官。在本文中，我们综述了目前针对各种 IMD 中代谢物解毒的肝脏靶向基因治疗方法，并讨论了 IMD 基因治疗中目前尚未解决的挑战。
