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Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective
Mitochondrial diseases (MDs) are a group of severe genetic disorders caused by mutations in the nuclear or mitochondrial genome encoding proteins involved in the oxidative phosphorylation (OXPHOS) system. MDs have a wide range of symptoms, ranging from organ-specific to multisystemic dysfunctions, w...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9231068/ https://www.ncbi.nlm.nih.gov/pubmed/35745859 http://dx.doi.org/10.3390/pharmaceutics14061287 |
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author | Di Donfrancesco, Alessia Massaro, Giulia Di Meo, Ivano Tiranti, Valeria Bottani, Emanuela Brunetti, Dario |
author_facet | Di Donfrancesco, Alessia Massaro, Giulia Di Meo, Ivano Tiranti, Valeria Bottani, Emanuela Brunetti, Dario |
author_sort | Di Donfrancesco, Alessia |
collection | PubMed |
description | Mitochondrial diseases (MDs) are a group of severe genetic disorders caused by mutations in the nuclear or mitochondrial genome encoding proteins involved in the oxidative phosphorylation (OXPHOS) system. MDs have a wide range of symptoms, ranging from organ-specific to multisystemic dysfunctions, with different clinical outcomes. The lack of natural history information, the limits of currently available preclinical models, and the wide range of phenotypic presentations seen in MD patients have all hampered the development of effective therapies. The growing number of pre-clinical and clinical trials over the last decade has shown that gene therapy is a viable precision medicine option for treating MD. However, several obstacles must be overcome, including vector design, targeted tissue tropism and efficient delivery, transgene expression, and immunotoxicity. This manuscript offers a comprehensive overview of the state of the art of gene therapy in MD, addressing the main challenges, the most feasible solutions, and the future perspectives of the field. |
format | Online Article Text |
id | pubmed-9231068 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-92310682022-06-25 Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective Di Donfrancesco, Alessia Massaro, Giulia Di Meo, Ivano Tiranti, Valeria Bottani, Emanuela Brunetti, Dario Pharmaceutics Review Mitochondrial diseases (MDs) are a group of severe genetic disorders caused by mutations in the nuclear or mitochondrial genome encoding proteins involved in the oxidative phosphorylation (OXPHOS) system. MDs have a wide range of symptoms, ranging from organ-specific to multisystemic dysfunctions, with different clinical outcomes. The lack of natural history information, the limits of currently available preclinical models, and the wide range of phenotypic presentations seen in MD patients have all hampered the development of effective therapies. The growing number of pre-clinical and clinical trials over the last decade has shown that gene therapy is a viable precision medicine option for treating MD. However, several obstacles must be overcome, including vector design, targeted tissue tropism and efficient delivery, transgene expression, and immunotoxicity. This manuscript offers a comprehensive overview of the state of the art of gene therapy in MD, addressing the main challenges, the most feasible solutions, and the future perspectives of the field. MDPI 2022-06-17 /pmc/articles/PMC9231068/ /pubmed/35745859 http://dx.doi.org/10.3390/pharmaceutics14061287 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Di Donfrancesco, Alessia Massaro, Giulia Di Meo, Ivano Tiranti, Valeria Bottani, Emanuela Brunetti, Dario Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective |
title | Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective |
title_full | Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective |
title_fullStr | Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective |
title_full_unstemmed | Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective |
title_short | Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective |
title_sort | gene therapy for mitochondrial diseases: current status and future perspective |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9231068/ https://www.ncbi.nlm.nih.gov/pubmed/35745859 http://dx.doi.org/10.3390/pharmaceutics14061287 |
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