Genome editing for inborn errors of metabolism: advancing towards the clinic.
Genome editing for inborn errors of metabolism: advancing towards the clinic.
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DOI：
10.1186/s12916-017-0798-4
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发表时间：
2017-02-27
期刊：
影响因子：
9.3
通讯作者：
Venditti CP
中科院分区：
文献类型：
--
作者：
Schneller JL;Lee CM;Bao G;Venditti CP
先天性代谢错误（IEM）包括许多疾病，目前的治疗旨在改善疾病的表现，但不能治愈。基因组编辑领域的进展最近导致了IEM小鼠模型的体内校正。位点特异性内切酶，如锌指核酸酶和CRISPR/Cas9系统，结合靶向疾病组织的传递载体，已经能够纠正血友病B、遗传性酪氨酸血症I型、鸟氨酸转氨基甲酰基酶缺乏症和溶酶体储存紊乱的疾病模型中的突变。本文回顾和讨论了这些体内基因校正研究，以及基因组编辑的概述和该领域的未来发展方向。
Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative. Advances in the field of genome editing have recently resulted in the in vivo correction of murine models of IEM. Site-specific endonucleases, such as zinc-finger nucleases and the CRISPR/Cas9 system, in combination with delivery vectors engineered to target disease tissue, have enabled correction of mutations in disease models of hemophilia B, hereditary tyrosinemia type I, ornithine transcarbamylase deficiency, and lysosomal storage disorders. These in vivo gene correction studies, as well as an overview of genome editing and future directions for the field, are reviewed and discussed herein.