Department of Radiology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.
Department of Genetics, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.
Cereb Cortex. 2023 Jun 8;33(12):7436-7453. doi: 10.1093/cercor/bhad050.
As a regressive neurodevelopmental disorder with a well-established genetic cause, Rett syndrome and its Mecp2 loss-of-function mouse model provide an excellent opportunity to define potentially translatable functional signatures of disease progression, as well as offer insight into the role of Mecp2 in functional circuit development. Thus, we applied widefield optical fluorescence imaging to assess mesoscale calcium functional connectivity (FC) in the Mecp2 cortex both at postnatal day (P)35 in development and during the disease-related decline. We found that FC between numerous cortical regions was disrupted in Mecp2 mutant males both in juvenile development and early adulthood. Female Mecp2 mice displayed an increase in homotopic contralateral FC in the motor cortex at P35 but not in adulthood, where instead more posterior parietal regions were implicated. An increase in the amplitude of connection strength, both with more positive correlations and more negative anticorrelations, was observed across the male cortex in numerous functional regions. Widespread rescue of MeCP2 protein in GABAergic neurons rescued none of these functional deficits, nor, surprisingly, the expected male lifespan. Altogether, the female results identify early signs of disease progression, while the results in males indicate MeCP2 protein is required for typical FC in the brain.
作为一种具有明确遗传原因的退行性神经发育障碍,雷特综合征及其 Mecp2 功能丧失型小鼠模型为定义潜在可转化的疾病进展功能特征提供了极好的机会,同时也深入了解了 Mecp2 在功能回路发育中的作用。因此,我们应用宽场光学荧光成像来评估 Mecp2 皮层的介观钙功能连接(FC),既包括发育过程中的出生后第 35 天(P35),也包括与疾病相关的衰退期。我们发现,Mecp2 突变雄性小鼠的许多皮层区域之间的 FC 在幼年发育和成年早期均受到破坏。Mecp2 雌性小鼠在 P35 时出现运动皮层同侧对侧 FC 增加,但在成年期没有增加,而更多的后顶叶区域受到影响。在许多功能区域的雄性皮层中,连接强度的幅度增加,既有更多的正相关,也有更多的负反相关。GABA 能神经元中广泛拯救 MeCP2 蛋白并不能挽救这些功能缺陷,也没有挽救雄性预期的寿命。总之,女性的结果确定了疾病进展的早期迹象,而男性的结果则表明 MeCP2 蛋白是大脑中典型 FC 所必需的。