Proof of concept for base editing in Pompe disease

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Base editing is a new genomic editing technique based on the CRISPR-Cas9 system, which makes it possible to modify just one target nucleotide in a gene. To demonstrate its value in Pompe disease, American researchers identified three mutations in the GAA gene that could be corrected using this approach and tested it on cells taken from patients:

  • normal GAA protein is expressed ;
  • in certain cells, glycogen accumulation is reduced thanks to a sufficiently large quantity of functional GAA enzyme.

The researchers now plan to evaluate this approach on mouse models.

 

Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells. Christensen CL, Kan SH, Perla Andrade-Heckman P et al. Mol Ther Nucleic Acids. 2024 May

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