Immune dysfunction in Rett syndrome patients revealed by high levels of serum anti-N(Glc) IgM antibody fraction.
Immune dysfunction in Rett syndrome patients revealed by high levels of serum anti-N(Glc) IgM antibody fraction.
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DOI：
10.1155/2014/260973
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发表时间：
2014
影响因子：
4.1
通讯作者：
Hayek J
中科院分区：
文献类型：
--
作者：
Papini AM;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
Rett综合征(RTT)是一种仅影响(99%)女婴的神经发育障碍，与编码甲基CpG结合蛋白2(MECP2)的基因功能丧失有关，更罕见的是与细胞周期蛋白依赖性蛋白样蛋白5(CDKL5)和叉头盒蛋白G1(FOXG1)相关。在这项研究中，我们旨在通过检测RTT患者(n=53)以及年龄匹配的非RTT弥漫性发育障碍(non-RTT PDD)儿童(n=82)和健康对照(n=29)的血清免疫球蛋白(Ig G和Ig M)来评估免疫系统的功能。为了测定免疫球蛋白，我们使用了一种传统的凝集试验和一种基于替代抗原探针CSF114(GLC)抗体识别的新型ELISA法，CSF114(GLC)是一种合成的N-葡萄糖化肽。这两种检测结果都证明RTT患者的IgM滴度较健康对照组和非RTT PDD患者升高，但未见升高。在CSF114(GLC)检测中，RTT患者和健康人之间的IgM滴度有显著差异(P=0.001)，提示该方法特异性地检测到可能与RTT疾病相关的一小部分IgM抗体。这些发现为了解Rett病的潜在机制提供了新的见解，因为它们揭示了免疫系统可能参与这一病理过程。
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.
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影响因子：
7
作者：
Pandey, Shashank;Dioni, Ilaria;Rovero, Paolo
通讯作者：
Rovero, Paolo
影响因子：
64.5
作者：
Reddy MM;Wilson R;Wilson J;Connell S;Gocke A;Hynan L;German D;Kodadek T
通讯作者：
Kodadek T
影响因子：
3.5
作者：
Mari, F;Azimonti, S;Landsberger, N
通讯作者：
Landsberger, N
影响因子：
9.8
作者：
Ariani, Francesca;Hayek, Giuseppe;Renieri, Alessandra
通讯作者：
Renieri, Alessandra
DOI：
10.1073/pnas.0503178102
发表时间：
2005-07-19
影响因子：
11.1
作者：
Lolli, F;Mulinacci, B;Papini, AM
通讯作者：
Papini, AM