Research development and the prospect of animal models of mitochondrial DNA-related mitochondrial diseases

被引：0

作者：

Wang X. ^{[1
,2
,3
]}

Lu H. ^{[1
,2
,3
]}

Li M. ^{[1
,2
,3
]}

Zhang Z. ^{[1
,2
,3
]}

Wei Z. ^{[1
,2
,3
]}

Zhou P. ^{[1
,4
,5
]}

Cao Y. ^{[1
,2
,3
]}

Ji D. ^{[1
,4
,5
]}

Zou W. ^{[1
,2
,3
]}

机构：

[1] Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, No 218 Jixi Road, Anhui, Hefei

[2] NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), No 81 Meishan Road, Anhui, Hefei

[3] Key Laboratory of Population Health Across Life Cycle (Anhui Medical University, Ministry of Education of the People's Republic of China, No 81 Meishan Road, Anhui, Hefei

[4] Anhui Province Key Laboratory of Reproductive Health and Genetics, No 81 Meishan Road, Anhui, Hefei

[5] Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, No 81 Meishan Road, Anhui, Hefei

来源：

Analytical Biochemistry | 2023年 / 669卷

基金：

中国国家自然科学基金;

关键词：

Animal models; Mitochondrial diseases; Mitochondrial DNA; MtDNA mutation;

D O I：

10.1016/j.ab.2023.115122

中图分类号：

R318.08 [生物材料学]; Q [生物科学];

学科分类号：

07 ; 0710 ; 0805 ; 080501 ; 080502 ; 09 ;

摘要：

Mitochondrial diseases (MDs) are genetic and clinical heterogeneous diseases caused by mitochondrial oxidative phosphorylation defects. It is not only one of the most common genetic diseases, but also the only genetic disease involving two different genomes in humans. As a result of the complicated genetic condition, the pathogenesis of MDs is not entirely elucidated at present, and there is a lack of effective treatment in the clinic. Establishing the ideal animal models is the critical preclinical platform to explore the pathogenesis of MDs and to verify new therapeutic strategies. However, the development of animal modeling of mitochondrial DNA (mtDNA)-related MDs is time-consuming due to the limitations of physiological structure and technology. A small number of animal models of mtDNA mutations have been constructed using cell hybridization and other methods. However, the diversity of mtDNA mutation sites and clinical phenotypes make establishing relevant animal models tricky. The development of gene editing technology has become a new hope for establishing animal models of mtDNA-related mitochondrial diseases. © 2023

引用

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