Spinal muscular atrophy (SMA), caused by SMN1 gene defects, leads to motor neuron loss and muscle atrophy. Current treatments, including small molecules and viral vectors, offer improvements but lack definitive, long-term correction. This study demonstrates a CRISPR-Cas9-based homologous recombination targeted integration (HITI) strategy for correcting SMA mutations in mice. Combining HITI with SMN1 cDNA supplementation yielded long-term therapeutic benefits, opening new avenues for treating inherited diseases.
Publisher
Nature Communications
Published On
Jul 24, 2024
Authors
Fumiyuki Hatanaka, Keiichiro Suzuki, Kensaku Shojima, Jingting Yu, Yuta Takahashi, Akihisa Sakamoto, Javier Prieto, Maxim Shokhirev, Estrella Nuñez Delicado, Concepcion Rodriguez Esteban, Juan Carlos Izpisua Belmonte
Tags
spinal muscular atrophy
CRISPR-Cas9
gene therapy
SMN1
homologous recombination
gene correction
mutations
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