Myelin genes are downregulated in canine fucosidosis

Jessica L. Fletcher*, Gauthami S. Kondagari, Amanda L. Wright, Peter C. Thomson, Peter Williamson, Rosanne M. Taylor

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1418-1426
Number of pages9
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Issue number11
Publication statusPublished - Nov 2011
Externally publishedYes


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