人类线粒体遗传学
遗传学
线粒体
线粒体DNA
突变
基因组
氧化磷酸化
计算生物学
生物
功能(生物学)
生物化学
粒线体疾病
生物信息学
基因
作者
Congcong Zhang,Yufei Xue,Lan Wang,Qiong Wu,Bin Fang,Shengquan Yu,Hua Bai,Bo Peng,Naidi Yang,Lin Li
出处
期刊:ChemBioChem
[Wiley]
日期:2021-10-27
卷期号:23 (4)
被引量:2
标识
DOI:10.1002/cbic.202100474
摘要
Mitochondrial DNA (mtDNA) is the genetic information of mitochondrion, and its structure is circular double-stranded. Despite the diminutive size of the mitochondrial genome, mtDNA mutations are an important cause of mitochondrial diseases which are characterized by defects in oxidative phosphorylation (OXPHOS). Mitochondrial diseases are involved in multiple systems, particularly in the organs that are highly dependent on aerobic metabolism. The diagnosis of mitochondrial disease is more complicated since mtDNA mutations can cause various clinical symptoms. To realize more accurate diagnosis and treatment of mitochondrial diseases, the detection of mtDNA and the design of drugs acting on it are extremely important. Over the past few years, many probes and therapeutic drugs targeting mtDNA have been developed, making significant contributions to fundamental research including elucidation of the mechanisms of mitochondrial diseases at the genetic level. In this review, we summarize the structure, function, and detection approaches for mtDNA. The most current topics in this field, such as mechanistic exploration and treatment of mtDNA mutation-related disorders, are also reviewed. Specific attention is given to discussing the design and development of these probes and drugs for mtDNA. We hope that this review will provide readers with a comprehensive understanding of the importance of mtDNA, and promote the development of effective molecules for theragnosis of mtDNA mutation-related diseases.
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