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Myelin genes are downregulated in canine fucosidosis


Fletcher, JL and Kondagari, GS and Wright, AL and Thomson, PC and Williamson, P and Taylor, RM, Myelin genes are downregulated in canine fucosidosis, Biochimica Et Biophysica Acta, 1812, (11) pp. 1418-1426. ISSN 0006-3002 (2011) [Refereed Article]

Copyright Statement

2011 Elsevier B.V. All rights reserved.

DOI: doi:10.1016/j.bbadis.2011.06.001


The processes regulating the complex neurodegenerative cascade of vacuolation, neuroinflammation, neuronal loss and myelin deficits in fucosidosis, a neurological lysosomal storage disorder, remain unclear. To elucidate these processes the gene expression profile of the cerebral cortex from untreated and intrathecal enzyme replacement therapy treated fucosidosis pups and age-matched unaffected controls were examined. Neuroinflammation and cell death processes were identified to have a major role in fucosidosis pathophysiology with 37% of differentially expressed (DE) genes involved in these processes. Critical, specific, early decreases in expression levels of key genes in myelin assembly were identified by gene expression profiling, including myelin-associated glycoprotein (MAG), myelin and lymphocyte protein (MAL), and oligodendrocyte myelin paranodal and inner loop protein (OPALIN). These gene expression changes may be indicative of early neuronal loss causing reduced electrical impulses required for oligodendrocyte maturation.

Item Details

Item Type:Refereed Article
Keywords:lysosomal storage disease, fucosidosis, myelin, transcriptomics
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Neurology and neuromuscular diseases
Objective Division:Expanding Knowledge
Objective Group:Expanding knowledge
Objective Field:Expanding knowledge in the biomedical and clinical sciences
UTAS Author:Fletcher, JL (Dr Jessica Fletcher)
ID Code:147208
Year Published:2011
Web of Science® Times Cited:13
Deposited By:Menzies Institute for Medical Research
Deposited On:2021-10-19
Last Modified:2021-12-09

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