Journal article
Polyglucosan body structure in Lafora disease
Carbohydrate Polymers, Vol.240, pp.1-14
2020
PMID: 32475552
Abstract
Abnormal carbohydrate structures known as polyglucosan bodies (PGBs) are associated with neurological disorders, glycogen storage diseases (GSDs), and aging. A hallmark of the GSD Lafora disease (LD), a fatal childhood epilepsy caused by recessive mutations in the EPM2A or EPM2B genes, are cytoplasmic PGBs known as Lafora bodies (LBs). LBs result from aberrant glycogen metabolism and drive disease progression. They are abundant in brain, muscle and heart of LD patients and Epm2a-/- and Epm2b-/- mice. LBs and PGBs are histologically reminiscent of starch, semicrystalline carbohydrates synthesized for glucose storage in plants. In this study, we define LB architecture, tissue-specific differences, and dynamics. We propose a model for how small polyglucosans aggregate to form LBs. LBs are very similar to PGBs of aging and other neurological disorders, and so these studies have direct relevance to the general understanding of PGB structure and formation.
Details
- Title
- Polyglucosan body structure in Lafora disease
- Authors
- M Kathryn Brewer - Institute for Research in BiomedicineJean-Luc Putaux - Université Grenoble AlpesAlberto Rondon - University of KentuckyAnnette Uittenbogaard - University of KentuckyMitchell A Sullivan - University of QueenslandMatthew S Gentry (Corresponding Author) - University of Kentucky
- Publication details
- Carbohydrate Polymers, Vol.240, pp.1-14
- Publisher
- Elsevier Ltd
- Date published
- 2020
- DOI
- 10.1016/j.carbpol.2020.116260
- ISSN
- 1879-1344
- PMID
- 32475552
- Organisation Unit
- School of Health - Biomedicine
- Language
- English
- Record Identifier
- 991035095502621
- Output Type
- Journal article
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- Domestic collaboration
- International collaboration
- Web Of Science research areas
- Chemistry, Applied
- Chemistry, Organic
- Polymer Science
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