期刊
CARBOHYDRATE POLYMERS
卷 240, 期 -, 页码 -出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.carbpol.2020.116260
关键词
glycogen; starch; epilepsy; polyglucosan bodies; Lafora bodies; Lafora disease; glycogen storage disease
资金
- National Institutes of Health [R01 NS070899, P01 NS097197, R35 NS116824, F31 NS093892]
- Epilepsy Foundation New Therapy Commercialization Grant
- Mizutani Foundation for Glycoscience
- Glyco@Alps program [ANR-15-IDEX-02]
- European Union's Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant [754510M]
- Mater Research McGuckin Early Career Fellowship
- University of Queensland's Amplify Initiative
- Mater Foundation
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 poly-glucosans 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.
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