Base editing, under investigation in SMA

Two teams investigated the base editing technique to convert the SMN2 gene into the SMN1 gene:

• in cell models of SMA, the exchange of the different base of exon 7 of the SMN2 gene was successful (with minimal “off-target”),
• In SMA mouse models, SMN protein production is increased and motor function is improved,
• the life span of the mice was extended.

This base-specific approach may allow modification of the SMN2 gene in all SMA patients, independent of the mutations that lead to loss of SMN1.

 

Base editing rescue of spinal muscular atrophy in cells and in mice. Arbab M, Matuszek Z, Kray KM et al. Science. 2023 Avril.

 

Base editing as a genetic treatment for spinal muscular atrophy. Alves CRR, Ha LL, Yaworski R et al. bioRxiv [Preprint]. 2023 Jan 21:2023.01.20.524978.