A hit for base editing: treatment of developmental epilepsy in a mouse model.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 41623178.
- Also identified by DOI 10.1172/JCI200689 and PMC identifier 12867158.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
CRISPR/Cas9 base editing holds the potential to treat disease caused by single-nucleotide variants. In contrast with conventional CRISPR/Cas9 approaches, base editing enzymatically induces precise DNA alterations and can directly correct disease-causing variants. In this issue of JCI, Reever et al. used base editing to treat a mouse model of a severe neurodevelopmental disorder caused by a pathogenic missense variant in the voltage-gated sodium channel gene SCN8A. This work represents a starting point for the further refinement of base editing to treat genetic epilepsy.
Medical subject headings
- Gene Editing
- CRISPR-Cas Systems
- Epilepsy
- NAV1.6 Voltage-Gated Sodium Channel
- Genetic Therapy