Base editing analysis of muscles from adenine base editor-treated DMD mice.

Duchenne muscular dystrophy (DMD) affecting 1 in 3500-5000 live male newborns is the frequently fatal genetic disease resulted from various mutations in DMD gene encoding dystrophin protein. About 70% of DMD-causing mutations are exon deletion leading to frameshift of open reading frame (ORF) and dystrophin deficiency. We targeted splicing sites in human exon 50 with adenine base editor (ABE) to induce exon skipping and robustly restored dystrophin expression in heart, tibialis anterior (TA) and diaphragm (DI) muscles. Importantly, systemic delivery of base editor via adeno-associated virus (AAV) in the humanized mouse model improved the muscle function of DMD mice to the similar level of wildtype ones, indicating the therapeutic efficacy of base editing strategy in treating most of DMD types with exon deletion or point mutations via exon-skipping induction. The provided data set primarily consists of next-generation sequencing (NGS) data obtained from humanized mouse models following treatment with ABE.