期刊
EMBO MOLECULAR MEDICINE
卷 4, 期 8, 页码 719-729出版社
WILEY
DOI: 10.1002/emmm.201200241
关键词
Drosophila; glucose metabolism; glycogen; Lafora disease; neurodegeneration
资金
- Spanish Ministerio de Ciencia e Innovacion [BFU2010-21123, CSD2007-00008]
- Generalitat de Catalunya [2005 SGR 00118, 2009 SGR 01176]
- EMBO Young Investigator Programme
- Direccion General de Investigacion Cientifica y Tecnica [BFU2008-00769]
- Fundacion Marcelino Botin
- CIBER de Diabetes y Enfermedades Metabolicas Asociadas (ISCIII, Ministerio de Ciencia e Innovacion)
- Marie Curie Intra European Fellowship
- IRB Barcelona Interdisciplinary fellowship
- ICREA Funding Source: Custom
Under physiological conditions, most neurons keep glycogen synthase (GS) in an inactive form and do not show detectable levels of glycogen. Nevertheless, aberrant glycogen accumulation in neurons is a hallmark of patients suffering from Lafora disease or other polyglucosan disorders. Although these diseases are associated with mutations in genes involved in glycogen metabolism, the role of glycogen accumulation remains elusive. Here, we generated mouse and fly models expressing an active form of GS to force neuronal accumulation of glycogen. We present evidence that the progressive accumulation of glycogen in mouse and Drosophila neurons leads to neuronal loss, locomotion defects and reduced lifespan. Our results highlight glycogen accumulation in neurons as a direct cause of neurodegeneration.
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