Layer-specific genes reveal a rudimentary laminar pattern in human nodular heterotopia
Layer-specific genes reveal a rudimentary laminar pattern in human nodular heterotopia
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DOI：
10.1212/wnl.0b013e3181af3397
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发表时间：
2009-09-08
期刊：
影响因子：
9.9
通讯作者：
Spreafico, R.
中科院分区：
文献类型：
--
作者：
Garbelli, R.;Rossini, L.;Spreafico, R.
目的：通过评估三种不同层特异性标志物Ror β、Er81和Nurr1的mRNA表达，探讨耐药癫痫患者标本中结节性异位的独特特征。方法：采用原位杂交技术，对14例癫痫患者手术标本中主要在IV层表达Ror β、V层表达Er81、VI层表达Nurr1的标记基因进行分析。皮质下结节性异位6例，对照组8例。评估了结节形成和覆盖的新皮层的内在组织。结果：在所有患者中，选择的3个基因均表现出较高的皮质层特异性。在皮质下结节异位中，不同的基因表达谱揭示了结节的初级层状组织。在覆盖的皮层中，与对照组相比，在适当的特定层中表达这3个基因的细胞较少。结论：这些数据为结节性异位形成的可能的个体发生机制提供了新的见解，并显示了层特异性标记物在阐明皮质发育畸形的神经病理学中的潜在作用。神经病学(R) 2009；73:746 - 753
Objective: To define distinctive features of nodular heterotopia in specimens derived from drug-resistant patients with epilepsy by evaluating mRNA expression of three different layer-specific markers: Ror beta, Er81, and Nurr1.Methods: We analyzed the expression profile of these genes, recognized as markers mainly expressed in layer IV for Ror beta, in layer V for Er81, and in layer VI for Nurr1, in surgical samples from 14 epileptic patients, using in situ hybridization. Six patients had subcortical nodular heterotopia and 8 patients were controls. The intrinsic organization of nodular formations and of the overlaying neocortex was assessed.Results: In all patients, the 3 selected genes showed high cortical laminar specificity. In subcortical nodular heterotopia, the different gene expression profiles revealed a rudimentary laminar organization of the nodules. In the overlaying cortex, fewer cells expressed the 3 genes in the appropriate specific layer as compared to controls.Conclusions: These data provide new insights into possible ontogenetic mechanisms of nodular heterotopia formation and show the potential role of layer-specific markers to elucidate the neuropathology of malformations of cortical development. Neurology (R) 2009;73:746-753