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

Autor: Julien Niederhauser, François Spertini, Sven Bergmann, Goranka Tanackovic, Kim Ellefsen, Adriana Ransijn, Diana Marek, Stephanie Papin, Nathalie Isidor, Sébastien Jacquemont, Lucienne Poupon, Giuseppe Pantaleo, Jacques S. Beckmann
Rok vydání: 2012
Předmět:
Fragile X mental retardation 1 (FMR1) gene
Adult
Male
Ataxia
Aged
Alleles
Analysis of Variance
Case-Control Studies
Cytokines
Enzyme-Linked Immunosorbent Assay
Fragile X Mental Retardation Protein/genetics
Fragile X Syndrome/genetics
Fragile X Syndrome/metabolism
Humans
Interleukin-10/metabolism
Leukocytes
Mononuclear/metabolism
Middle Aged
Regression Analysis
Severity of Illness Index
Trinucleotide Repeat Expansion/genetics
medicine.medical_treatment
Immunology
Peripheral blood mononuclear cell
lcsh:RC346-429
Fragile X Mental Retardation Protein
Cellular and Molecular Neuroscience
Fragile X-associated tremor ataxia syndrome
medicine
Allele
lcsh:Neurology. Diseases of the nervous system
Genetics
Immune activation
Research
General Neuroscience
medicine.disease
FMR1
Interleukin-10
Fragile X syndrome
Cytokine
Neurology
Fragile X Syndrome
IL-10
Leukocytes
Mononuclear
medicine.symptom
Trinucleotide Repeat Expansion
Trinucleotide repeat expansion
Psychology
Fragile X-associated tremor/ataxia syndrome
Zdroj: Journal of Neuroinflammation, vol. 9, pp. 238
Journal of Neuroinflammation, Vol 9, Iss 1, p 238 (2012)
Journal of Neuroinflammation
ISSN: 1742-2094
DOI: 10.1186/1742-2094-9-238
Popis: 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.
Databáze: OpenAIRE
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