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

Journal of Neuroinflammation (Impact Factor: 5.41). 10/2012; 9(1):238. DOI: 10.1186/1742-2094-9-238
Source: PubMed


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.

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Available from: Kim Ellefsen
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    • "While not presenting with increased development of similar immune related disorders as female carriers, male carries are more prone to develop other symptomology such as FXTAS. In males with FXTAS, inflammatory profiles, similar to those seen in autoimmune and autoinflammatory disorders, have been observed suggesting that immune dysregulation exists in males as well [18]. However, it is not clear what the immune profile of premutation carriers looks like before the appearance of immune related disorders and whether this profile belies a susceptibility to autoimmune and autoinflammatory disorders. "
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