Progress of therapy for mitochondrial diseases caused by mitochondrial genome mutations

YANG Zhen; RENG Kaiqun; GU Feng

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Journal of Hunan Normal University(Medical Science) ›› 2023, Vol. 20 ›› Issue (5) : 1-7.

Invited Review

Progress of therapy for mitochondrial diseases caused by mitochondrial genome mutations

YANG Zhen¹, RENG Kaiqun¹, GU Feng^1,2

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Abstract

Mitochondrial diseases refer to a group of multi-system diseases caused by mitochondrial DNA（mtDNA）or nuclear DNA（nDNA）mutations that cause functional defects of mitochondrial metabolic enzymes,leading to adenosine triphosphate（ATP）synthesis disorders and insufficient energy production. It can involve nerves,muscles,eyes,ears,digestion,endocrine,cardiovascular,kidney and blood system alone or simultaneously. The genetic properties of mtDNA are very complex because there are multiple copies of mtDNA in each cell,and mtDNA mutations can be homogeneous（basically all mtDNA is a mutant）or heterogeneous（a mixture of mutated and wild-type mtDNA）. Dysfunction occurs only when the proportion of mutant mtDNA reaches a critical threshold. Not only can mitochondrial diseases occur at any age,but they can cause symptoms in any organ system. Therefore,it is of great significance to study gene therapy for mitochondrial diseases. The new generation of biotechnology has given birth to the treatment ideas and methods for mitochondrial diseases caused by mitochondrial genome mutations. In the present paper,we summarize the clinical application and the related exploratory research work in the research stage and highlight the bottlenecks for the treatments. It may pave a way for the development of novel therapeutic methods for mitochondrial diseases.

Key words

mitochondrial diseases / gene editing / gene therapy

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YANG Zhen, RENG Kaiqun, GU Feng. Progress of therapy for mitochondrial diseases caused by mitochondrial genome mutations[J]. Journal of Hunan Normal University(Medical Science). 2023, 20(5): 1-7

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