Subclinical inflammatory status in Rett syndrome.
Subclinical inflammatory status in Rett syndrome.
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DOI：
10.1155/2014/480980
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发表时间：
2014
影响因子：
4.6
通讯作者：
Hayek J
中科院分区：
文献类型：
--
作者：
Cortelazzo A;De Felice C;Guerranti R;Signorini C;Leoncini S;Pecorelli A;Zollo G;Landi C;Valacchi G;Ciccoli L;Bini L;Hayek J
炎症被认为是发育性认知障碍的一种可能的共同中枢机制。Rett综合征（RTT）是一种毁灭性的神经发育障碍，主要由编码MeCP 2的基因中的从头功能丧失突变引起。在这里，我们研究了II期（即，通过常规血液学/临床化学和蛋白质组学2-DE/MALDI-T0 F分析，作为四种主要MECP 2基因突变类型（R306 C、T158 M、R168 X和大缺失）的函数，对患有“假性孤独症”）RTT患者进行研究。RTT中可检测到红细胞沉降率值升高（中位数33.0 mm/h vs 8.0 mm/h，P < 0.0001），而C反应蛋白水平无变化（P = 0.63）。2-DE分析鉴定了总共17种蛋白质的显著变化，其中大多数被归类为APR蛋白质，阳性（n = 6个点）或阴性（n = 9个点），并且在较小程度上被归类为参与免疫系统的蛋白质（n = 2个点），其中一些蛋白质在代谢上具有重叠功能（n = 7个点）。蛋白质变化的数量与突变的严重程度成正比。我们的研究结果首次揭示了与RTT的“假性自闭症”阶段相关的亚临床慢性炎症状态的存在，这与MECP 2基因突变所携带的严重程度有关。
Inflammation has been advocated as a possible common central mechanism for developmental cognitive impairment. Rett syndrome (RTT) is a devastating neurodevelopmental disorder, mainly caused by de novo loss-of-function mutations in the gene encoding MeCP2. Here, we investigated plasma acute phase response (APR) in stage II (i.e., “pseudo-autistic”) RTT patients by routine haematology/clinical chemistry and proteomic 2-DE/MALDI-TOF analyses as a function of four major MECP2 gene mutation types (R306C, T158M, R168X, and large deletions). Elevated erythrocyte sedimentation rate values (median 33.0 mm/h versus 8.0 mm/h, P < 0.0001) were detectable in RTT, whereas C-reactive protein levels were unchanged (P = 0.63). The 2-DE analysis identified significant changes for a total of 17 proteins, the majority of which were categorized as APR proteins, either positive (n = 6 spots) or negative (n = 9 spots), and to a lesser extent as proteins involved in the immune system (n = 2 spots), with some proteins having overlapping functions on metabolism (n = 7 spots). The number of protein changes was proportional to the severity of the mutation. Our findings reveal for the first time the presence of a subclinical chronic inflammatory status related to the “pseudo-autistic” phase of RTT, which is related to the severity carried by the MECP2 gene mutation.