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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, RM
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.

History

Publication title

Biochimica Et Biophysica Acta

Volume

1812

Issue

11

Pagination

1418-1426

ISSN

0006-3002

Department/School

Menzies Institute for Medical Research

Publisher

Elsevier Pub. Co.

Place of publication

Netherlands

Rights statement

© 2011 Elsevier B.V. All rights reserved.

Repository Status

  • Restricted

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