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.
