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Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10
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 retardati...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3528457/ https://www.ncbi.nlm.nih.gov/pubmed/23062006 http://dx.doi.org/10.1186/1742-2094-9-238 |
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author | Marek, Diana Papin, Stephanie Ellefsen, Kim Niederhauser, Julien Isidor, Nathalie Ransijn, Adriana Poupon, Lucienne Spertini, Francois Pantaleo, Giuseppe Bergmann, Sven Beckmann, Jacques S Jacquemont, Sebastien Tanackovic, Goranka |
author_facet | Marek, Diana Papin, Stephanie Ellefsen, Kim Niederhauser, Julien Isidor, Nathalie Ransijn, Adriana Poupon, Lucienne Spertini, Francois Pantaleo, Giuseppe Bergmann, Sven Beckmann, Jacques S Jacquemont, Sebastien Tanackovic, Goranka |
author_sort | Marek, Diana |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3528457 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-35284572013-01-03 Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10 Marek, Diana Papin, Stephanie Ellefsen, Kim Niederhauser, Julien Isidor, Nathalie Ransijn, Adriana Poupon, Lucienne Spertini, Francois Pantaleo, Giuseppe Bergmann, Sven Beckmann, Jacques S Jacquemont, Sebastien Tanackovic, Goranka J Neuroinflammation Research 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. BioMed Central 2012-10-13 /pmc/articles/PMC3528457/ /pubmed/23062006 http://dx.doi.org/10.1186/1742-2094-9-238 Text en Copyright ©2012 Marek et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Marek, Diana Papin, Stephanie Ellefsen, Kim Niederhauser, Julien Isidor, Nathalie Ransijn, Adriana Poupon, Lucienne Spertini, Francois Pantaleo, Giuseppe Bergmann, Sven Beckmann, Jacques S Jacquemont, Sebastien Tanackovic, Goranka Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10 |
title | Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10 |
title_full | Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10 |
title_fullStr | Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10 |
title_full_unstemmed | Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10 |
title_short | Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10 |
title_sort | carriers of the fragile x mental retardation 1 (fmr1) premutation allele present with increased levels of cytokine il-10 |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3528457/ https://www.ncbi.nlm.nih.gov/pubmed/23062006 http://dx.doi.org/10.1186/1742-2094-9-238 |
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