Phenotyping Scientific Publications

Latest publication 03/03/2026

A mitochondrial disease model is generated and corrected using engineered base e

Efficient generation and correction of mutations in mitochondrial DNA (mtDNA) is challenging. Here, through embryonic injection of an mtDNA adenine...

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    [title] => A mitochondrial disease model is generated and corrected using engineered base e
    [paragraph] => A mitochondrial disease model is generated and corrected using engineered base editors in rat zygotes
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Authors
Chen, Liang, Luan, Changming, Hong, Mengjia, Yuan, Meng, Huang, Hao, Gao, Debo, Guo, Xinyuan, Chen, Zhengxin, Li, Yongmei, Yang, Lei, Yi, Zongyi, Wei, Wensheng, Liu, Mingyao, Gao, Liangcai, Han, Honghui, Li, Dali

Lab
China; Beijing; China; BRL Medicine; Inc.; China; China; Beijing
Journal
Nature Biotechnology
Abstract
Efficient generation and correction of mutations in mitochondrial DNA (mtDNA) is challenging. Here, through embryonic injection of an mtDNA adenine base editor (eTd-mtABE), Leigh syndrome rat models were generated efficiently (up to 74%) in the F0 generation, exhibiting severe defects. To correct this mutation, a precise mtDNA C-to-T base editor was engineered and injected into mutated embryos. It achieved restoration of wild-type alleles to an average of 53%, leading to amelioration of disease symptoms. A mitochondrial disease is modeled using engineered base editors in rats.
Keywords/Topics
Gene therapy; Molecular engineering
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