Rett syndrome (RTT) a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated to 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.

Immune dysfunction in Rett syndrome patients revealed by high levels of serum anti-N(Glc) IgM antibody fraction / Anna Maria Papini; Francesca Nuti; Feliciana Real-Fernandez; Giada Rossi; Caterina Tiberi; Giuseppina Sabatino; Shashank Pandey; Silvia Leoncini; Cinzia Signorini; Alessandra Pecorelli; Roberto Guerranti; Solange Lavielle; Lucia Ciccoli; Paolo Rovero; Claudio De Felice; Joussef Hayek. - In: JOURNAL OF IMMUNOLOGY RESEARCH. - ISSN 2314-7156. - STAMPA. - 2014:(2014), pp. 1-6. [10.1155/2014/260973]

Immune dysfunction in Rett syndrome patients revealed by high levels of serum anti-N(Glc) IgM antibody fraction

PAPINI, ANNA MARIA;NUTI, FRANCESCA;REAL FERNANDEZ, FELICIANA;ROSSI, GIADA;TIBERI, CATERINA;SABATINO, GIUSEPPINA;ROVERO, PAOLO;
2014

Abstract

Rett syndrome (RTT) a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated to 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.
2014
2014
1
6
Anna Maria Papini; Francesca Nuti; Feliciana Real-Fernandez; Giada Rossi; Caterina Tiberi; Giuseppina Sabatino; Shashank Pandey; Silvia Leoncini; Cinzia Signorini; Alessandra Pecorelli; Roberto Guerranti; Solange Lavielle; Lucia Ciccoli; Paolo Rovero; Claudio De Felice; Joussef Hayek
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/896931
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