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

Diana Marek12, Stephanie Papin1, Kim Ellefsen3, Julien Niederhauser4, Nathalie Isidor5, Adriana Ransijn1, Lucienne Poupon3, Francois Spertini3, Giuseppe Pantaleo3, Sven Bergmann12, Jacques S Beckmann15, Sebastien Jacquemont5 and Goranka Tanackovic1*

Author Affiliations

1 Department of Medical Genetics, University of Lausanne, Rue du Bugnon 27, Lausanne, 1005, Switzerland

2 Swiss Institute of Bioinformatics, Quartier Sorge - Batiment Genopode, Lausanne, 1015, Switzerland

3 Division of Immunology and Allergy, Centre Hospitalier Universitaire Vaudois, Rue du Bugnon 46, Lausanne, 1011, Switzerland

4 Department of Clinical Neuroscience, Centre Hospitalier Universitaire Vaudois, Rue du Bugnon 46, Lausanne, 1011, Switzerland

5 Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Avenue Pierre Decker 2, Lausanne, 1011, Switzerland

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Journal of Neuroinflammation 2012, 9:238  doi:10.1186/1742-2094-9-238

Published: 13 October 2012



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.


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.


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).


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.

Fragile X mental retardation 1 (FMR1) gene; Fragile X-associated tremor ataxia syndrome; Immune activation; Cytokines; IL-10