The tuberous sclerosis complex (TSC), focal cortical dysplasia IIB (FCD IIB), and hemimegalencephaly (HME) exhibit similar molecular features that are dependent on the hyperactivation of the mTOR pathway. They are all associated with refractory epilepsy and the need for surgical resection with varying outcomes. The phosphorylated protein S6 (pS6) is a downstream target of mTOR, whose increased expression might indicate mTOR hyperactivation, but which is also present when there is no alteration in the pathway (such as in FCD type I). We have performed immunohistochemical marking and quantification of pS6 in resected brain specimens of 26 patients clinically and histologically diagnosed with TSC, FCD IIB, or HME and compared this data to a control group of 25 patients, to measure the extent of pS6 positivity and its correlation with clinical aspects. Our results suggest that pS6 may serve as a reliable biomarker in epilepsy and that a greater percentage of pS6 marking can relate to more severe forms of mTOR-dependent brain anomalies.
Dev Neurosci

中文翻译：

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S6 蛋白的磷酸化作为手术治疗难治性癫痫的潜在生物标志物

结节性硬化症 (TSC)、局灶性皮质发育不良 IIB (FCD IIB) 和半巨脑畸形 (HME) 表现出类似的分子特征，这些特征取决于 mTOR 通路的过度激活。它们都与难治性癫痫和手术切除的需要有关，结果各不相同。磷酸化蛋白 S6 (pS6) 是 mTOR 的下游靶标，其表达增加可能表明 mTOR 过度活化，但在通路没有改变时（例如 FCD I 型）也会存在。我们对 26 名临床和组织学诊断为 TSC、FCD IIB 或 HME 的患者的切除脑标本进行了 pS6 的免疫组织化学标记和定量，并将该数据与 25 名患者的对照组进行了比较，以测量 pS6 阳性的程度及其相关性与临床方面。
开发神经科学