Advances in gene therapy for Lafora disease: Intravenous recombinant adeno-associated virus-mediated delivery of EPM2A and EPM2B genes.

ABSTRACT:

Background

Lafora disease is a rare and fatal form of progressive myoclonus epilepsy that typically manifests in late childhood, presenting with seizures and progressive neurological decline. It is caused by mutations in EPM2A or EPM2B genes, encoding laforin and malin, which form a complex that regulates glycogen metabolism and mitigates cellular stress. Loss of function in either gene leads to the accumulation of Lafora bodies, insoluble polyglucosan aggregates that contribute to neurodegeneration.

Methods

We previously demonstrated the efficacy of gene therapy using intracerebroventricular delivery of rAAV2/9 vectors expressing EPM2A or EPM2B in mouse models of Lafora disease. Building on these findings, we investigated the therapeutic and translational potential of a les

SUBMITTER: Zafra-Puerta L 

PROVIDER: S-EPMC12576012 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature