Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot
Duchenne muscular dystrophy (DMD) is a fatal genetic disease affecting children that is caused by a mutation in the gene encoding for dystrophin. In the absence of functional dystrophin, patients experience progressive muscle deterioration, leaving them wheelchair-bound by age 12 and with few patien...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-01-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/2/257 |
| _version_ | 1797479916242993152 |
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| author | Harry Wilton-Clark Toshifumi Yokota |
| author_facet | Harry Wilton-Clark Toshifumi Yokota |
| author_sort | Harry Wilton-Clark |
| collection | DOAJ |
| description | Duchenne muscular dystrophy (DMD) is a fatal genetic disease affecting children that is caused by a mutation in the gene encoding for dystrophin. In the absence of functional dystrophin, patients experience progressive muscle deterioration, leaving them wheelchair-bound by age 12 and with few patients surviving beyond their third decade of life as the disease advances and causes cardiac and respiratory difficulties. In recent years, an increasing number of antisense and gene therapies have been studied for the treatment of muscular dystrophy; however, few of these therapies focus on treating mutations arising in the N-terminal encoding region of the dystrophin gene. This review summarizes the current state of development of N-terminal antisense and gene therapies for DMD, mainly focusing on exon-skipping therapy for duplications and deletions, as well as microdystrophin therapy. |
| first_indexed | 2024-03-09T21:52:38Z |
| format | Article |
| id | doaj.art-426cdfb564214a4a8e43971ae63a0697 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T21:52:38Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-426cdfb564214a4a8e43971ae63a06972023-11-23T20:04:04ZengMDPI AGGenes2073-44252022-01-0113225710.3390/genes13020257Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal HotspotHarry Wilton-Clark0Toshifumi Yokota1Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R3, CanadaDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R3, CanadaDuchenne muscular dystrophy (DMD) is a fatal genetic disease affecting children that is caused by a mutation in the gene encoding for dystrophin. In the absence of functional dystrophin, patients experience progressive muscle deterioration, leaving them wheelchair-bound by age 12 and with few patients surviving beyond their third decade of life as the disease advances and causes cardiac and respiratory difficulties. In recent years, an increasing number of antisense and gene therapies have been studied for the treatment of muscular dystrophy; however, few of these therapies focus on treating mutations arising in the N-terminal encoding region of the dystrophin gene. This review summarizes the current state of development of N-terminal antisense and gene therapies for DMD, mainly focusing on exon-skipping therapy for duplications and deletions, as well as microdystrophin therapy.https://www.mdpi.com/2073-4425/13/2/257Duchenne muscular dystrophyexon skipping therapyantisense oligonucleotidemicrodystrophinadeno-associated virus |
| spellingShingle | Harry Wilton-Clark Toshifumi Yokota Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot Genes Duchenne muscular dystrophy exon skipping therapy antisense oligonucleotide microdystrophin adeno-associated virus |
| title | Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot |
| title_full | Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot |
| title_fullStr | Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot |
| title_full_unstemmed | Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot |
| title_short | Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot |
| title_sort | antisense and gene therapy options for duchenne muscular dystrophy arising from mutations in the n terminal hotspot |
| topic | Duchenne muscular dystrophy exon skipping therapy antisense oligonucleotide microdystrophin adeno-associated virus |
| url | https://www.mdpi.com/2073-4425/13/2/257 |
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