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Myelin genes are downregulated in canine fucosidosis
journal contribution
posted on 2023-05-21, 03:16 authored by Jessica FletcherJessica Fletcher, Kondagari, GS, Wright, AL, Thomson, PC, Williamson, P, Taylor, RMThe 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.
History
Publication title
Biochimica Et Biophysica ActaVolume
1812Issue
11Pagination
1418-1426ISSN
0006-3002Department/School
Menzies Institute for Medical ResearchPublisher
Elsevier Pub. Co.Place of publication
NetherlandsRights statement
© 2011 Elsevier B.V. All rights reserved.Repository Status
- Restricted