Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy

Metachromatic leukodystrophy (MLD) is a lysosomal storage disease resulting from a deficiency of arylsulfatase A causing an accumulation of cerebroside sulfate, a lipid normally abundant in myelin. Sulfatide accumulation is associated with progressive demyelination and a clinical presentation in sev...

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Bibliographic Details
Published in:Scientific reports 2016-04, Vol.6 (1), p.24579-24579, Article 24579
Main Authors: Thibert, Kathryn A, Raymond, Gerald V, Tolar, Jakub, Miller, Weston P, Orchard, Paul J, Lund, Troy C
Format: Article
Language:English
Subjects:
Adolescent
Arylsulfatase
Case-Control Studies
Cerebroside-sulfatase
Cerebrospinal fluid
Child
Child, Preschool
Cytokines
Cytokines - cerebrospinal fluid
Demyelination
Humans
Infant
Inflammation
Inflammation Mediators - cerebrospinal fluid
Interleukin 1 receptor antagonist
Interleukin 1 receptors
Interleukin 8
Leukodystrophy
Leukodystrophy, Metachromatic - cerebrospinal fluid
Leukodystrophy, Metachromatic - diagnostic imaging
Macrophage inflammatory protein
Magnetic Resonance Imaging
Monocyte chemoattractant protein 1
Motor task performance
Myelin
Sulfate
Sulfatide
Vascular endothelial growth factor
Young Adult
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Summary:Metachromatic leukodystrophy (MLD) is a lysosomal storage disease resulting from a deficiency of arylsulfatase A causing an accumulation of cerebroside sulfate, a lipid normally abundant in myelin. Sulfatide accumulation is associated with progressive demyelination and a clinical presentation in severe disease forms that is dominated by motor manifestations. Cerebral inflammation may contribute to the pathophysiology of MLD. To date, cytokine levels in the cerebral spinal fluid of MLD patients have not previously been reported. The objective of this study was to evaluate the concentration of inflammatory cytokines in the CSF of patients with MLD and to compare these levels to unaffected controls. Of 22 cytokines evaluated, we documented significant elevations of MCP-1, IL-1Ra, IL-8, MIP-1b and VEGF in the MLD patients compared to unaffected controls. The elevated cytokines identified in this study may play a significant role in the pathophysiology of MLD. Better understanding of the inflammatory and neurodegenerative process of MLD may lead to improved targeted therapies.
ISSN:2045-2322
2045-2322
DOI:10.1038/srep24579