eprintid: 10162546 rev_number: 10 eprint_status: archive userid: 699 dir: disk0/10/16/25/46 datestamp: 2023-01-04 16:59:28 lastmod: 2023-01-04 17:00:08 status_changed: 2023-01-04 17:00:08 type: article metadata_visibility: show sword_depositor: 699 creators_name: Soldatov, Vladislav creators_name: Deykin, Alexey creators_name: Skorkina, Marina creators_name: Kubekina, Marina creators_name: Belykh, Andrei creators_name: Egorova, Tatiana creators_name: Korokin, Mikhail creators_name: Pokrovskiy, Mikhail creators_name: Stroh, Plamena R title: Current advances in gene therapy of mitochondrial diseases ispublished: pub divisions: UCL divisions: B02 divisions: C07 divisions: D07 divisions: F84 keywords: Mitochondrial diseases, Gene therapy, Energy metabolism, Mitochondrial DNA, Heteroplasmy note: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. abstract: 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. date: 2022-12-05 date_type: published publisher: BioMed Central official_url: https://doi.org/10.1186/s12967-022-03685-0 oa_status: green full_text_type: pub language: eng primo: open primo_central: open_green verified: verified_manual elements_id: 1986014 doi: 10.1186/s12967-022-03685-0 medium: Electronic pii: 10.1186/s12967-022-03685-0 lyricists_name: Stroh, Plamena lyricists_id: PSTRO69 actors_name: Stroh, Plamena actors_id: PSTRO69 actors_role: owner funding_acknowledgements: 075-15-2021-1346 [Ministry of Science and Higher Education of the Russian Federation]; [CO Research Trust, UK]; FZWG-2021-016 [State Task of the Laboratory of Genome Editing for Biomedicine and Animal Health of the Belgorod State National Research University] full_text_status: public publication: Journal of Translational Medicine volume: 20 number: 1 article_number: 562 pages: 23 event_location: England issn: 1479-5876 citation: Soldatov, Vladislav; Deykin, Alexey; Skorkina, Marina; Kubekina, Marina; Belykh, Andrei; Egorova, Tatiana; Korokin, Mikhail; ... Stroh, Plamena R; + view all <#> Soldatov, Vladislav; Deykin, Alexey; Skorkina, Marina; Kubekina, Marina; Belykh, Andrei; Egorova, Tatiana; Korokin, Mikhail; Pokrovskiy, Mikhail; Stroh, Plamena R; - view fewer <#> (2022) Current advances in gene therapy of mitochondrial diseases. Journal of Translational Medicine , 20 (1) , Article 562. 10.1186/s12967-022-03685-0 <https://doi.org/10.1186/s12967-022-03685-0>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/10162546/1/Current%20advances%20in%20gene%20therapy%20of%20mitochondrial%20diseases.pdf