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Immune dysfunction in Rett syndrome patients revealed by high levels of serum anti-N(Glc) IgM antibody fraction
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نویسنده
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papini a.m. ,nuti f. ,real-fernandez f. ,rossi g. ,tiberi c. ,sabatino g. ,pandey s. ,leoncini s. ,signorini c. ,pecorelli a. ,guerranti r. ,lavielle s. ,ciccoli l. ,rovero p. ,de felice c. ,hayek j.
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منبع
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journal of immunology research - 2014 - دوره : 2014 - شماره : 0
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چکیده
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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. © 2014 anna maria papini et al.
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آدرس
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laboratory of peptide and protein chemistry and biology,university of florence,via della lastruccia 13,sesto fiorentino,italy,department of chemistry ugo schiff,university of florence,sesto fiorentino,italy,laboratory of peptlab-sosco-ea4505,university of cergy-pontoise,5 mail gay lussac, France, laboratory of peptide and protein chemistry and biology,university of florence,via della lastruccia 13,sesto fiorentino,italy,department of chemistry ugo schiff,university of florence, Italy, toscana biomarkers srl, Italy, laboratory of peptide and protein chemistry and biology,university of florence,via della lastruccia 13,sesto fiorentino,italy,section of pharmaceutical and nutraceutical sciences,department neurofarba,university of florence, Italy, laboratory of peptide and protein chemistry and biology,university of florence,via della lastruccia 13,sesto fiorentino,italy,section of pharmaceutical and nutraceutical sciences,department neurofarba,university of florence, Italy, laboratory of peptide and protein chemistry and biology,university of florence,via della lastruccia 13,sesto fiorentino,italy,department of chemistry ugo schiff,university of florence, Italy, laboratory of peptide and protein chemistry and biology,university of florence,via della lastruccia 13,sesto fiorentino,italy,department of chemistry ugo schiff,university of florence, Italy, child neuropsychiatry unit,university hospital,azienda ospedaliera universitaria senese (aous),siena,italy,department of molecular and developmental medicine,university of siena, Italy, department of molecular and developmental medicine,university of siena, Italy, child neuropsychiatry unit,university hospital,azienda ospedaliera universitaria senese (aous),siena,italy,department of molecular and developmental medicine,university of siena, Italy, department of medical biotechnologies,university of siena,siena,italy,clinical pathology laboratory unit,university hospital,aous, Italy, laboratory of biomolecules,sorbonne université upmc paris 06,cnrs-ens, France, department of molecular and developmental medicine,university of siena, Italy, laboratory of peptide and protein chemistry and biology,university of florence,via della lastruccia 13,sesto fiorentino,italy,section of pharmaceutical and nutraceutical sciences,department neurofarba,university of florence, Italy, neonatal intensive care unit,university hospital,aous, Italy, child neuropsychiatry unit,university hospital,azienda ospedaliera universitaria senese (aous), Italy
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Authors
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