Impaired autophagy in Lafora disease |
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| Authors: | Erwin Knecht Carmen Aguado Sovan Sarkar Viktor I Korolchuk Olga Criado-García Santiago Vernia Patricia Boya Pascual Sanz Santiago Rodríguez de Córdoba David C Rubinsztein |
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| Affiliation: | 1.Laboratory of Cellular Biology; Valencia; Centro de Investigación Príncipe Felipe and CIBERER; Valencia, Spain;2.Department of Medical Genetics; Cambridge; Institute for Medical Research; Addenbrooke''s Hospital; Cambridge UK;3.Centro de Investigaciones Biológicas; CSIC and CIBERER; Madrid, Spain;4.Instituto de Biomedicina de Valencia; CSIC and CIBERER; Valencia, Spain |
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| Abstract: | 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 percent 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.Key words: autophagy, glycogen metabolism, Lafora disease, laforin, malin, neurodegeneration |
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