Base editing rescue of spinal muscular atrophy in cells and in mice

Science. 2023 Apr 21;380(6642):eadg6518. doi: 10.1126/science.adg6518. Epub 2023 Apr 14.

Abstract

Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved therapies circumvent endogenous SMN regulation and require repeated dosing or may wane. We describe genome editing of SMN2, an insufficient copy of SMN1 harboring a C6>T mutation, to permanently restore SMN protein levels and rescue SMA phenotypes. We used nucleases or base editors to modify five SMN2 regulatory regions. Base editing converted SMN2 T6>C, restoring SMN protein levels to wild type. Adeno-associated virus serotype 9-mediated base editor delivery in Δ7SMA mice yielded 87% average T6>C conversion, improved motor function, and extended average life span, which was enhanced by one-time base editor and nusinersen coadministration (111 versus 17 days untreated). These findings demonstrate the potential of a one-time base editing treatment for SMA.

MeSH terms

  • Animals
  • Fibroblasts / metabolism
  • Gene Editing*
  • Mice
  • Motor Neurons / metabolism
  • Muscular Atrophy, Spinal* / genetics
  • Muscular Atrophy, Spinal* / therapy
  • Survival of Motor Neuron 1 Protein* / genetics
  • Survival of Motor Neuron 2 Protein* / genetics

Substances

  • Survival of Motor Neuron 1 Protein
  • SMN2 protein, mouse
  • Survival of Motor Neuron 2 Protein
  • Smn1 protein, mouse