Therapeutic strategy for spinal muscular atrophy by combining gene supplementation and genome editing

Fumiyuki Hatanaka, Keiichiro Suzuki, Kensaku Shojima, Jingting Yu, Yuta Takahashi, Akihisa Sakamoto, Javier Prieto, Maxim Shokhirev, Estrella Nuñez Delicado, Concepcion Rodriguez Esteban and Juan Carlos Izpisua Belmonte ()
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Fumiyuki Hatanaka: Salk Institute for Biological Studies
Keiichiro Suzuki: Osaka University
Kensaku Shojima: Salk Institute for Biological Studies
Jingting Yu: Salk Institute for Biological Studies
Yuta Takahashi: Salk Institute for Biological Studies
Akihisa Sakamoto: Salk Institute for Biological Studies
Javier Prieto: Salk Institute for Biological Studies
Maxim Shokhirev: Salk Institute for Biological Studies
Estrella Nuñez Delicado: 135
Concepcion Rodriguez Esteban: Salk Institute for Biological Studies
Juan Carlos Izpisua Belmonte: Salk Institute for Biological Studies

Nature Communications, 2024, vol. 15, issue 1, 1-11

Abstract: Abstract Defect in the SMN1 gene causes spinal muscular atrophy (SMA), which shows loss of motor neurons, muscle weakness and atrophy. While current treatment strategies, including small molecules or viral vectors, have shown promise in improving motor function and survival, achieving a definitive and long-term correction of SMA’s endogenous mutations and phenotypes remains highly challenging. We have previously developed a CRISPR-Cas9 based homology-independent targeted integration (HITI) strategy, enabling unidirectional DNA knock-in in both dividing and non-dividing cells in vivo. In this study, we demonstrated its utility by correcting an SMA mutation in mice. When combined with Smn1 cDNA supplementation, it exhibited long-term therapeutic benefits in SMA mice. Our observations may provide new avenues for the long-term and efficient treatment of inherited diseases.

Date: 2024
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DOI: 10.1038/s41467-024-50095-5

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