Research progress on the physiological function of mtDNA and its specific detection and therapy

doi: 10.1002/cbic.202100474.

Online ahead of print.


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Congcong Zhang et al.




Mitochondrial DNA (mtDNA) is a mitochondrial genetic material, which is a circular double-stranded deoxyribonucleotide found in the mitochondria of cells. Despite the diminutive size of mitochondrial genome, mtDNA mutations are an important cause of mitochondrial diseases that are characterized by defects in oxidative phosphorylation. Mitochondrial diseases are involved in multiple systems, particularly in the organs that are highly dependent on aerobic metabolism. The diagnosis of mitochondrial disease is further complicated since mtDNA mutations can cause various clinical symptoms. To obtain more accurate diagnosis and treatment of mitochondrial diseases, the detection of mtDNA and the design of drugs acting on mtDNA 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, detection and their applications in mechanisms exploration and treatment of mtDNA mutation-related disorders. Noting that we specifically discuss how these probes and drugs for mtDNA are designed and developed. 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.


DNA targeting; Fluorescent probes; Mitochondrial DNA; mitochondrial dysfunction; mitochondrial therapy.

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