Brain Science Institute, Korea Institute of Science and Technology (KIST), Seoul 02792; Division of Bio-Medical Science & Technology, KIST School, Korea University of Science and Technology, Seoul 02792, Korea.
BMB Rep. 2024 Jan;57(1):19-29. doi: 10.5483/BMBRep.2023-0224.
Mitochondrial DNA (mtDNA), a multicopy genome found in mitochondria, is crucial for oxidative phosphorylation. Mutations in mtDNA can lead to severe mitochondrial dysfunction in tissues and organs with high energy demand. MtDNA mutations are closely associated with mitochondrial and age-related disease. To better understand the functional role of mtDNA and work toward developing therapeutics, it is essential to advance technology that is capable of manipulating the mitochondrial genome. This review discusses ongoing efforts in mitochondrial genome editing with mtDNA nucleases and base editors, including the tools, delivery strategies, and applications. Future advances in mitochondrial genome editing to address challenges regarding their efficiency and specificity can achieve the promise of therapeutic genome editing. [BMB Reports 2024; 57(1): 19-29].
线粒体 DNA（mtDNA）是一种存在于线粒体中的多拷贝基因组，对于氧化磷酸化至关重要。mtDNA 突变可导致高能量需求的组织和器官中线粒体功能严重失调。mtDNA 突变与线粒体和年龄相关疾病密切相关。为了更好地理解 mtDNA 的功能作用并努力开发治疗方法，必须推进能够操纵线粒体基因组的技术。本综述讨论了使用 mtDNA 核酸酶和碱基编辑器进行线粒体基因组编辑的最新进展，包括工具、递送策略和应用。未来在提高线粒体基因组编辑的效率和特异性方面的进展，可以实现治疗性基因组编辑的承诺。[BMB 报告 2024；57（1）：19-29]。
