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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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Journal of Immunology Research |
| Online Access: | http://dx.doi.org/10.1155/2014/260973 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Anna Maria Papini |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-953e301579e340bfacc3f4bbbeb0966e |
| institution | Kabale University |
| issn | 2314-8861 2314-7156 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Immunology Research |
| spelling | doaj-art-953e301579e340bfacc3f4bbbeb0966e2025-02-03T05:58:03ZengWileyJournal of Immunology Research2314-88612314-71562014-01-01201410.1155/2014/260973260973Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody FractionAnna Maria Papini0Francesca Nuti1Feliciana Real-Fernandez2Giada Rossi3Caterina Tiberi4Giuseppina Sabatino5Shashank Pandey6Silvia Leoncini7Cinzia Signorini8Alessandra Pecorelli9Roberto Guerranti10Solange Lavielle11Lucia Ciccoli12Paolo Rovero13Claudio De Felice14Joussef Hayek15Laboratory of Peptide and Protein Chemistry and Biology, University of Florence, Via della Lastruccia 13, 50019 Sesto Fiorentino, ItalyLaboratory of Peptide and Protein Chemistry and Biology, University of Florence, Via della Lastruccia 13, 50019 Sesto Fiorentino, ItalyToscana Biomarkers Srl, 53100 Siena, ItalyLaboratory of Peptide and Protein Chemistry and Biology, University of Florence, Via della Lastruccia 13, 50019 Sesto Fiorentino, ItalyLaboratory of Peptide and Protein Chemistry and Biology, University of Florence, Via della Lastruccia 13, 50019 Sesto Fiorentino, ItalyLaboratory of Peptide and Protein Chemistry and Biology, University of Florence, Via della Lastruccia 13, 50019 Sesto Fiorentino, ItalyLaboratory of Peptide and Protein Chemistry and Biology, University of Florence, Via della Lastruccia 13, 50019 Sesto Fiorentino, ItalyChild Neuropsychiatry Unit, University Hospital, Azienda Ospedaliera Universitaria Senese (AOUS), 53100 Siena, ItalyDepartment of Molecular and Developmental Medicine, University of Siena, 53100 Siena, ItalyChild Neuropsychiatry Unit, University Hospital, Azienda Ospedaliera Universitaria Senese (AOUS), 53100 Siena, ItalyDepartment of Medical Biotechnologies, University of Siena, 53100 Siena, ItalyLaboratory of BioMolecules, Sorbonne Université UPMC Paris 06, CNRS-ENS, 75005 Paris, FranceDepartment of Molecular and Developmental Medicine, University of Siena, 53100 Siena, ItalyLaboratory of Peptide and Protein Chemistry and Biology, University of Florence, Via della Lastruccia 13, 50019 Sesto Fiorentino, ItalyNeonatal Intensive Care Unit, University Hospital, AOUS, 53100 Siena, ItalyChild Neuropsychiatry Unit, University Hospital, Azienda Ospedaliera Universitaria Senese (AOUS), 53100 Siena, ItalyRett 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.http://dx.doi.org/10.1155/2014/260973 |
| spellingShingle | 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 Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction Journal of Immunology Research |
| title | Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction |
| title_full | Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction |
| title_fullStr | Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction |
| title_full_unstemmed | Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction |
| title_short | Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction |
| title_sort | immune dysfunction in rett syndrome patients revealed by high levels of serum anti n glc igm antibody fraction |
| url | http://dx.doi.org/10.1155/2014/260973 |
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