Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction

Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1). In this...

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Bibliographic Details
Published in:Journal of immunology research 2014-01, Vol.2014 (2014), p.1-6
Main Authors: Signorini, Cinzia, Pecorelli, Alessandra, Lavielle, Solange, Ciccoli, Lucia, Rovero, Paolo, De Felice, Claudio, Hayek, Joussef, Leoncini, Silvia, Pandey, Shashank, Sabatino, Giuseppina, Tiberi, Caterina, Rossi, Giada, Real-Fernandez, Feliciana, Nuti, Francesca, Papini, Anna Maria, Guerranti, Roberto
Format: Article
Language:English
Subjects:
Adolescent
Agglutination Tests - methods
Autism
Autoimmune diseases
Chemical Sciences
Child
Child, Preschool
Enzyme-Linked Immunosorbent Assay
Female
Forkhead Transcription Factors - genetics
Genes
Glycopeptides - immunology
Humans
Immune system
Immune System - immunology
Immunoglobulin G - blood
Immunoglobulin G - immunology
Immunoglobulin M - blood
Immunoglobulin M - immunology
Immunology
Methyl-CpG-Binding Protein 2 - genetics
Mutation
Nerve Tissue Proteins - genetics
Organic chemistry
Protein-Serine-Threonine Kinases - genetics
Rett Syndrome - blood
Rett Syndrome - genetics
Rett Syndrome - immunology
Young Adult
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Summary:Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1). In this study, we aimed to evaluate the function of the immune system by measuring serum immunoglobulins (IgG and IgM) in RTT patients (n=53) and, by comparison, in age-matched children affected by non-RTT pervasive developmental disorders (non-RTT PDD) (n=82) and healthy age-matched controls (n=29). To determine immunoglobulins we used both a conventional agglutination assay and a novel ELISA based on antibody recognition by a surrogate antigen probe, CSF114(Glc), a synthetic N-glucosylated peptide. Both assays provided evidence for an increase in IgM titer, but not in IgG, in RTT patients relative to both healthy controls and non-RTT PDD patients. The significant difference in IgM titers between RTT patients and healthy subjects in the CSF114(Glc) assay (P=0.001) suggests that this procedure specifically detects a fraction of IgM antibodies likely to be relevant for the RTT disease. These findings offer a new insight into the mechanism underlying the Rett disease as they unveil the possible involvement of the immune system in this pathology.
ISSN:2314-8861
2314-7156
DOI:10.1155/2014/260973