Current genetic survey and potential gene-targeting therapeutics for neuromuscular diseases

Wei Chiu, Ya Hsin Hsun, Kao Jung Chang, Aliaksandr A. Yarmishyn, Yu Jer Hsiao, Yueh Chien, Chian Shiu Chien, Chun Ma, Yi Ping Yang, Ping Hsing Tsai, Shih Hwa Chiou, Ting Yi Lin*, Hao Min Cheng

*此作品的通信作者

研究成果: Review article同行評審

9 引文 斯高帕斯(Scopus)

摘要

Neuromuscular diseases (NMDs) belong to a class of functional impairments that cause dysfunctions of the motor neuron-muscle functional axis components. Inherited monogenic neuromuscular disorders encompass both muscular dystrophies and motor neuron diseases. Understanding of their causative genetic defects and pathological genetic mechanisms has led to the unprecedented clinical translation of genetic therapies. Challenged by a broad range of gene defect types, researchers have developed different approaches to tackle mutations by hijacking the cellular gene expression machinery to minimize the mutational damage and produce the functional target proteins. Such manipulations may be directed to any point of the gene expression axis, such as classical gene augmentation, modulating premature termination codon ribosomal bypass, splicing modification of pre-mRNA, etc. With the soar of the CRISPR-based gene editing systems, researchers now gravitate toward genome surgery in tackling NMDs by directly correcting the mutational defects at the genome level and expanding the scope of targetable NMDs. In this article, we will review the current development of gene therapy and focus on NMDs that are available in published reports, including Duchenne Muscular Dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked myotubular myopathy (XLMTM), Spinal Muscular Atrophy (SMA), and Limb-girdle muscular dystrophy Type 2C (LGMD2C).

原文English
文章編號9589
頁(從 - 到)1-27
頁數27
期刊International Journal Of Molecular Sciences
21
發行號24
DOIs
出版狀態Published - 2 12月 2020

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