Mutagenesis and Mitochondrial-Associated Pathologies
Reactive oxygen species (ROS) and DNA double-strand breaks can result from mitochondrial defects and external sources, such as ionizing radiation. If not repaired properly, pathogenic mutations are generated. Human diseases resulting from inherited mitochondrial defects manifest in organs that physi...
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| Format: | Online |
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| Language: | English |
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IntechOpen
2022
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| Online Access: | ONIX_20220727_9781803551722_210 |
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| description | Reactive oxygen species (ROS) and DNA double-strand breaks can result from mitochondrial defects and external sources, such as ionizing radiation. If not repaired properly, pathogenic mutations are generated. Human diseases resulting from inherited mitochondrial defects manifest in organs that physiologically require a high level of ATP synthesis. These diseases are clinically challenging, but new experimental clinical therapies include gene editing and mitochondrial transplants. Pathogenic ROS-associated cellular damage includes DNA double-strand breaks, and mouse models are now available to study multiple repair pathways. This book discusses the clinical manifestations of mitochondrial diseases in both the eye and the kidney, and presents new insights into double-strand break repair pathways and developmental phenotypes of g-ray-associated ontogenic mutations of Drosophila melanogaste. |
| format | Online |
| id | doab-20.500.12854ir-90314 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | IntechOpen |
| publisherStr | IntechOpen |
| record_format | ojs |
| spelling | doab-20.500.12854ir-903142024-03-31T22:45:27Z Mutagenesis and Mitochondrial-Associated Pathologies Fasullo, Michael Catala, Angel Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics Reactive oxygen species (ROS) and DNA double-strand breaks can result from mitochondrial defects and external sources, such as ionizing radiation. If not repaired properly, pathogenic mutations are generated. Human diseases resulting from inherited mitochondrial defects manifest in organs that physiologically require a high level of ATP synthesis. These diseases are clinically challenging, but new experimental clinical therapies include gene editing and mitochondrial transplants. Pathogenic ROS-associated cellular damage includes DNA double-strand breaks, and mouse models are now available to study multiple repair pathways. This book discusses the clinical manifestations of mitochondrial diseases in both the eye and the kidney, and presents new insights into double-strand break repair pathways and developmental phenotypes of g-ray-associated ontogenic mutations of Drosophila melanogaste. 2022-07-27T08:19:22Z 2022-07-27T08:19:22Z 2022 book ONIX_20220727_9781803551722_210 9781803551722 9781803551715 9781803551739 https://directory.doabooks.org/handle/20.500.12854/90314 eng image/jpeg n/a https://www.intechopen.com/books/11348 https://mts.intechopen.com/storage/books/11348/authors_book/authors_book.pdf IntechOpen IntechOpen 10.5772/intechopen.98146 10.5772/intechopen.98146 78a36484-2c0c-47cb-ad67-2b9f5cd4a8f6 9781803551722 9781803551715 9781803551739 IntechOpen 116 open access |
| spellingShingle | Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics Mutagenesis and Mitochondrial-Associated Pathologies |
| title | Mutagenesis and Mitochondrial-Associated Pathologies |
| title_full | Mutagenesis and Mitochondrial-Associated Pathologies |
| title_fullStr | Mutagenesis and Mitochondrial-Associated Pathologies |
| title_full_unstemmed | Mutagenesis and Mitochondrial-Associated Pathologies |
| title_short | Mutagenesis and Mitochondrial-Associated Pathologies |
| title_sort | mutagenesis and mitochondrial associated pathologies |
| topic | Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics |
| topic_facet | Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics |
| url | ONIX_20220727_9781803551722_210 |