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Split otoferlins reunited
Gene therapy for genetic hearing loss is a nascent field with just a handful of studies published to date that demonstrate proof‐of‐concept recovery of auditory function (reviewed in Ahmed et al, 2017; Lustig & Akil, 2018). One challenge that faces the inner ear field, as well as the broader gen...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328905/ https://www.ncbi.nlm.nih.gov/pubmed/30573543 http://dx.doi.org/10.15252/emmm.201809995 |
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author | Holt, Jeffrey R Geleoc, Gwenaelle SG |
author_facet | Holt, Jeffrey R Geleoc, Gwenaelle SG |
author_sort | Holt, Jeffrey R |
collection | PubMed |
description | Gene therapy for genetic hearing loss is a nascent field with just a handful of studies published to date that demonstrate proof‐of‐concept recovery of auditory function (reviewed in Ahmed et al, 2017; Lustig & Akil, 2018). One challenge that faces the inner ear field, as well as the broader gene therapy field, is the need to deliver large gene sequences despite the limited genetic capacity (~4.5 kB) of delivery vehicles such as adeno‐associated viral vectors (AAV). In this issue, Al‐Moyed et al have overcome this conundrum by using two AAV vectors to deliver the coding sequence for otoferlin, which is ~6 kB. With dual‐AAV delivery of split otoferlin and a trans‐splicing approach, they demonstrate recombination of full‐length otoferlin in sensory hair cells of the inner ear, enabling partial restoration of auditory function in deaf, otoferlin‐null mice. |
format | Online Article Text |
id | pubmed-6328905 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-63289052019-01-16 Split otoferlins reunited Holt, Jeffrey R Geleoc, Gwenaelle SG EMBO Mol Med News & Views Gene therapy for genetic hearing loss is a nascent field with just a handful of studies published to date that demonstrate proof‐of‐concept recovery of auditory function (reviewed in Ahmed et al, 2017; Lustig & Akil, 2018). One challenge that faces the inner ear field, as well as the broader gene therapy field, is the need to deliver large gene sequences despite the limited genetic capacity (~4.5 kB) of delivery vehicles such as adeno‐associated viral vectors (AAV). In this issue, Al‐Moyed et al have overcome this conundrum by using two AAV vectors to deliver the coding sequence for otoferlin, which is ~6 kB. With dual‐AAV delivery of split otoferlin and a trans‐splicing approach, they demonstrate recombination of full‐length otoferlin in sensory hair cells of the inner ear, enabling partial restoration of auditory function in deaf, otoferlin‐null mice. John Wiley and Sons Inc. 2018-12-20 2019-01 /pmc/articles/PMC6328905/ /pubmed/30573543 http://dx.doi.org/10.15252/emmm.201809995 Text en © 2018 The Authors. Published under the terms of the CC BY 4.0 license This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | News & Views Holt, Jeffrey R Geleoc, Gwenaelle SG Split otoferlins reunited |
title | Split otoferlins reunited |
title_full | Split otoferlins reunited |
title_fullStr | Split otoferlins reunited |
title_full_unstemmed | Split otoferlins reunited |
title_short | Split otoferlins reunited |
title_sort | split otoferlins reunited |
topic | News & Views |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328905/ https://www.ncbi.nlm.nih.gov/pubmed/30573543 http://dx.doi.org/10.15252/emmm.201809995 |
work_keys_str_mv | AT holtjeffreyr splitotoferlinsreunited AT geleocgwenaellesg splitotoferlinsreunited |