Current advances in gene therapy of mitochondrial diseases

Journal of Translational Medicine

Review

Marina V. Kubekina¹  Vladislav O. Soldatov²  Marina Yu. Skorkina³  Plamena R. Angelova⁴  Mikhail V. Korokin⁵  Mikhail V. Pokrovskiy⁵  Alexey V. Deykin⁶  Andrei E. Belykh⁷  Tatiana V. Egorova⁸ 

[1] Core Facility Centre, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia;Core Facility Centre, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia;Department of Pharmacology and Clinical Pharmacology, Belgorod State National Research University, Belgorod, Russia;Laboratory of Genome Editing for Biomedicine and Animal Health, Belgorod State National Research University, Belgorod, Russia;Department of Biochemistry, Belgorod State National Research University, Belgorod, Russia;Laboratory of Genome Editing for Biomedicine and Animal Health, Belgorod State National Research University, Belgorod, Russia;Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK;Department of Pharmacology and Clinical Pharmacology, Belgorod State National Research University, Belgorod, Russia;Department of Pharmacology and Clinical Pharmacology, Belgorod State National Research University, Belgorod, Russia;Laboratory of Genome Editing for Biomedicine and Animal Health, Belgorod State National Research University, Belgorod, Russia;Dioscuri Centre for Metabolic Diseases, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland;Laboratory of Modeling and Gene Therapy of Hereditary Diseases, Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia;

关键词: Mitochondrial diseases;    Gene therapy;    Energy metabolism;    Mitochondrial DNA;    Heteroplasmy;   

DOI  :  10.1186/s12967-022-03685-0

 received in 2022-08-01, accepted in 2022-10-04,  发布年份 2022

来源: Springer

【 摘 要 】

Mitochondrial diseases (MD) are a heterogeneous group of multisystem disorders involving metabolic errors. MD are characterized by extremely heterogeneous symptoms, ranging from organ-specific to multisystem dysfunction with different clinical courses. Most primary MD are autosomal recessive but maternal inheritance (from mtDNA), autosomal dominant, and X-linked inheritance is also known. Mitochondria are unique energy-generating cellular organelles designed to survive and contain their own unique genetic coding material, a circular mtDNA fragment of approximately 16,000 base pairs. The mitochondrial genetic system incorporates closely interacting bi-genomic factors encoded by the nuclear and mitochondrial genomes. Understanding the dynamics of mitochondrial genetics supporting mitochondrial biogenesis is especially important for the development of strategies for the treatment of rare and difficult-to-diagnose diseases. Gene therapy is one of the methods for correcting mitochondrial disorders.Graphical Abstract

【 授权许可】

CC BY   
© The Author(s) 2022. corrected publication 2023

【 图 表 】

40463_2023_625_Article_IEq11.gif

Fig. 2

Fig. 2

Fig. 8