Lafora disease (LD) is a progressive, lethal, autosomal recessive, neurodegenerative disorder that manifests with myoclonus epilepsy. LD is characterized by the presence of intracellular inclusion bodies called Lafora bodies (LB), in brain, spinal cord and other tissues. More than 50% of LD is caused by mutations in EPM2A that encodes laforin. Here we review our recent findings that revealed that laforin regulates autophagy. We consider how autophagy compromise may predispose to LB formation and neurodegeneration in LD, and discuss future investigations suggested by our data.
C Aguado, S Sarkar, VI Korolchuk, O Criado, S Vernia, P Boya, P Sanz, Córdoba SR de, E Knecht, DC Rubinsztein. Laforin, the most common protein mutated in Lafora disease, regulates autophagy. Hum Mol Genet 2010; 19: 2867- 76.
PMID: 20453062 DOI: 10.1093/hmg/ddq190