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PLoS Genet. 2011 Apr;7(4):e1002037. doi: 10.1371/journal.pgen.1002037. Epub 2011 Apr 28.

PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.

Author information

1
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.

Abstract

Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME), and one of the severest epilepsies. Pathologically, a starch-like compound, polyglucosan, accumulates in neuronal cell bodies and overtakes neuronal small processes, mainly dendrites. Polyglucosan formation is catalyzed by glycogen synthase, which is activated through dephosphorylation by glycogen-associated protein phosphatase-1 (PP1). Here we remove PTG, one of the proteins that target PP1 to glycogen, from mice with Lafora disease. This results in near-complete disappearance of polyglucosans and in resolution of neurodegeneration and myoclonic epilepsy. This work discloses an entryway to treating this fatal epilepsy and potentially other glycogen storage diseases.

PMID:
21552327
PMCID:
PMC3084203
DOI:
10.1371/journal.pgen.1002037
[Indexed for MEDLINE]
Free PMC Article
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