In vivo base editing restores sensory transduction and transiently improves auditory function in a mouse model of recessive deafness.

Animals Deafness / genetics Fibroblasts Hair Cells, Auditory Hearing / genetics Humans Membrane Proteins Mice

Journal

Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086

Informations de publication

Date de publication:
03 06 2020
Historique:
received: 28 07 2019
accepted: 05 04 2020
entrez: 5 6 2020
pubmed: 5 6 2020
medline: 24 6 2021
Statut: ppublish

Résumé

Most genetic diseases arise from recessive point mutations that require correction, rather than disruption, of the pathogenic allele to benefit patients. Base editing has the potential to directly repair point mutations and provide therapeutic restoration of gene function. Mutations of transmembrane channel-like 1 gene (

Identifiants

DOI: 10.1126/scitranslmed.aay9101 PMID: 32493795 PMC: PMC8167884
pubmed: 32493795
pii: 12/546/eaay9101
doi: 10.1126/scitranslmed.aay9101
pmc: PMC8167884
mid: NIHMS1701929
pii:
doi:

Substances chimiques

Membrane Proteins 0
TMC1 protein, mouse 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NHGRI NIH HHS
ID : RM1 HG009490
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM118062
Pays : United States
Organisme : NIDCD NIH HHS
ID : R01 DC013521
Pays : United States
Organisme : NIAID NIH HHS
ID : U01 AI142756
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD090255
Pays : United States
Organisme : NCATS NIH HHS
ID : UG3 TR002636
Pays : United States

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

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Auteurs

Wei-Hsi Yeh (WH)

Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Program in Speech and Hearing Bioscience and Technology, Harvard Medical School, Boston, MA 02115, USA.
ORCID: 0000-0001-7507-8177

Olga Shubina-Oleinik (O)

Department of Otolaryngology, F.M. Kirby Neurobiology Center, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
ORCID: 0000-0003-2081-1700

Jonathan M Levy (JM)

Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
ORCID: 0000-0002-8061-7953

Bifeng Pan (B)

Department of Otolaryngology, F.M. Kirby Neurobiology Center, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

Gregory A Newby (GA)

Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
ORCID: 0000-0001-7869-2615

Michael Wornow (M)

Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
ORCID: 0000-0003-2215-6527

Rachel Burt (R)

Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, VIC 3052, Australia.

Jonathan C Chen (JC)

Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
ORCID: 0000-0003-4346-0501

Jeffrey R Holt (JR)

Department of Otolaryngology, F.M. Kirby Neurobiology Center, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. jeffrey.holt@childrens.harvard.edu drliu@fas.harvard.edu.
Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
ORCID: 0000-0002-7182-8011

David R Liu (DR)

Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA. jeffrey.holt@childrens.harvard.edu drliu@fas.harvard.edu.
Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Howard Hughes Medical Institute, Harvard University, Cambridge, MA 02138, USA.
ORCID: 0000-0002-9943-7557

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › In vivo base editing restores sensory...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Troubles sensitifs › Troubles de l'audition › Perte d'audition › Surdité › In vivo base editing restores sensory...
questionsmedicales.fr › Cellules › Cellules du tissu conjonctif › Fibroblastes › In vivo base editing restores sensory...
questionsmedicales.fr › Cellules › Neurones › Neurones afférents › Cellules réceptrices sensorielles › Mécanorécepteurs › Cellules neuroépithéliales › Cellules ciliées auditives › In vivo base editing restores sensory...
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Sensation › Ouïe › In vivo base editing restores sensory...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › In vivo base editing restores sensory...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › In vivo base editing restores sensory...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › In vivo base editing restores sensory...