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Title: Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora
Author: Pellegrini, Pasquale
Hervera Abad, Arnau
Varea, Olga
Brewer, M. Kathryn
López-Soldado, Iliana
Guitart, Anna
Aguilera, Mònica
Prats, Neus
Río Fernández, José Antonio del
Guinovart, Joan J. (Joan Josep), 1947-
Duran, Jordi
Keywords: Glicogen
Issue Date: 28-Dec-2021
Publisher: Humana Press.
Abstract: Lafora disease (LD) is a fatal childhood-onset dementia characterized by the extensive accumulation of glycogen aggregates-the so-called Lafora Bodies (LBs)-in several organs. The accumulation of LBs in the brain underlies the neurological phenotype of the disease. LBs are composed of abnormal glycogen and various associated proteins, including p62, an autophagy adaptor that participates in the aggregation and clearance of misfolded proteins. To study the role of p62 in the formation of LBs and its participation in the pathology of LD, we generated a mouse model of the disease (malinKO) lacking p62. Deletion of p62 prevented LB accumulation in skeletal muscle and cardiac tissue. In the brain, the absence of p62 altered LB morphology and increased susceptibility to epilepsy. These results demonstrate that p62 participates in the formation of LBs and suggest that the sequestration of abnormal glycogen into LBs is a protective mechanism through which it reduces the deleterious consequences of its accumulation in the brain.
Note: Reproducció del document publicat a:
It is part of: Molecular Neurobiology, 2021, vol. 59, num. 2, p. 1214-1229
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ISSN: 0893-7648
Appears in Collections:Articles publicats en revistes (Institut de Bioenginyeria de Catalunya (IBEC))
Articles publicats en revistes (Biologia Cel·lular, Fisiologia i Immunologia)
Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona))

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