Single-swap editing for the correction of common Duchenne muscular dystrophy mutations.
AAV
CRISPR-Cas9
DMD
Duchenne muscular dystrophy
MT: RNA/DNA editing
base editing
exon skipping
gene editing
iPSC
iPSC-CM
Journal
Molecular therapy. Nucleic acids
ISSN: 2162-2531
Titre abrégé: Mol Ther Nucleic Acids
Pays: United States
ID NLM: 101581621
Informations de publication
Date de publication:
13 Jun 2023
13 Jun 2023
Historique:
received:
09
12
2022
accepted:
13
04
2023
medline:
22
5
2023
pubmed:
22
5
2023
entrez:
22
5
2023
Statut:
epublish
Résumé
Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disease of progressive muscle weakness and wasting caused by the absence of dystrophin protein. Current gene therapy approaches using antisense oligonucleotides require lifelong dosing and have limited efficacy in restoring dystrophin production. A gene editing approach could permanently correct the genome and restore dystrophin protein expression. Here, we describe single-swap editing, in which an adenine base editor edits a single base pair at a splice donor site or splice acceptor site to enable exon skipping or reframing. In human induced pluripotent stem cell-derived cardiomyocytes, we demonstrate that single-swap editing can enable beneficial exon skipping or reframing for the three most therapeutically relevant exons-
Identifiants
pubmed: 37215149
doi: 10.1016/j.omtn.2023.04.009
pii: S2162-2531(23)00095-1
pmc: PMC10192335
doi:
Types de publication
Journal Article
Langues
eng
Pagination
522-535Subventions
Organisme : NICHD NIH HHS
ID : P50 HD087351
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL130253
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL157281
Pays : United States
Informations de copyright
© 2023 The Author(s).
Déclaration de conflit d'intérêts
F.C., R.B.-D., and E.N.O. have filed patent applications related to this work. E.N.O. is a consultant for Vertex Pharmaceuticals and Tenaya Therapeutics.
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