Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD develop cytoplasmic, aberrant glycogen inclusions in nearly all tissues that more closely resemble plant starch than human glycogen. This Minireview discusses the unique window into glycogen metabolism that LD research offers. It also highlights recent discoveries, including that glycogen contains covalently bound phosphate and that neurons synthesize glycogen and express both glycogen synthase and glycogen phosphorylase.
Keywords: E3 ubiquitin ligase; Lafora disease (Lafora progressive myoclonic epilepsy, MELF); carbohydrate binding module; epilepsy; glycogen; glycogen storage disease; phosphatase; phosphorylation.
© 2018 by The American Society for Biochemistry and Molecular Biology, Inc.