Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-12

AUTHORS

Diana Marek, Stephanie Papin, Kim Ellefsen, Julien Niederhauser, Nathalie Isidor, Adriana Ransijn, Lucienne Poupon, Francois Spertini, Giuseppe Pantaleo, Sven Bergmann, Jacques S Beckmann, Sebastien Jacquemont, Goranka Tanackovic

ABSTRACT

BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited late-onset neurodegenerative disorder, characterized both by neurological and cognitive deficits. It is caused by the expansion of CGG repeats (55 to 200 repeats) in the noncoding region of the fragile X mental retardation 1 (FMR1) gene. Abnormal immunological patterns are often associated with neurodegenerative disorders and implicated in their etiology. We therefore investigated the immune status of FXTAS patients, which had not been assessed prior to this study. METHOD: Peripheral blood mononuclear cells (PBMCs) were collected from 15 asymptomatic FMR1 premutation carriers and 20 age-matched controls. Concentrations of three cytokines (IL-6, IL-8, IL-10) were measured in PBMC supernatants using ELISA assays. RESULTS: We found a significant increase in the concentration of the major anti-inflammatory cytokine IL-10 in supernatants of PBMCs derived from premutation carriers, when compared with controls (P = 0.019). This increase correlated significantly with the number of CGG repeats (P = 0.002). CONCLUSIONS: Elevated IL-10 levels were observed in all premutation carriers, before appearance of the classical neurological symptoms; therefore, IL-10 may be one of the early biomarkers of FXTAS. More... »

PAGES

238

References to SciGraph publications

  • 2007-06. TH1 cells control themselves by producing interleukin-10 in NATURE REVIEWS IMMUNOLOGY
  • 2010-03. The regulation of IL-10 production by immune cells in NATURE REVIEWS IMMUNOLOGY
  • 2009-12. Does neuroinflammation fan the flame in neurodegenerative diseases? in MOLECULAR NEURODEGENERATION
  • 2007-10. The Role of Anti-Inflammatory Agents in Parkinson’s Disease in CNS DRUGS
  • 2010. Huntington’s Disease in DISEASES OF DNA REPAIR
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/1742-2094-9-238

    DOI

    http://dx.doi.org/10.1186/1742-2094-9-238

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1001256528

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/23062006


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