Rett Syndrome (RTT) is a neurodevelopmental disorder caused by Methyl CpG Binding Protein 2 (MECP2) gene mutations. Previous studies of MeCP2 in the human brain showed variable and inconsistent mosaic‐pattern immunolabelling, which has been interpreted as a reflection of activation‐state variability. We aimed to study post mortem MeCP2 and BDNF (MeCP2 target) degradation and brain region‐specific detection in relation to RTT pathophysiology.

中文翻译：

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Rett 综合征患者 MeCP2 和 BDNF 的脑区特异性差异表达：一种明显的灰白质变异

Rett 综合征 (RTT) 是一种由甲基 CpG 结合蛋白 2 (MECP2) 基因突变引起的神经发育障碍。先前对人脑中 MeCP2 的研究显示出可变且不一致的镶嵌图案免疫标记，这已被解释为激活状态可变性的反映。我们旨在研究与 RTT 病理生理学相关的死后 MeCP2 和 BDNF（MeCP2 目标）降解和大脑区域特异性检测。