Table 1_Brain morphological analysis in mice with hyperactivation of the hedgehog signaling pathway.xlsx

Hedgehog signaling is a highly conserved pathway that plays pivotal roles in morphogenesis, tumorigenesis, osteogenesis, and wound healing. Previous investigations in patients with Gorlin syndrome found low harm avoidance traits, and increased volumes in the cerebrum, cerebellum, and cerebral ventricles, suggesting the association between brain morphology and the constitutive hyperactivation of hedgehog signaling, while the changes of regional brain volumes in upregulated hedgehog signaling pathway remains unclear so far. Herein, we investigated comprehensive brain regional volumes using quantitative structural brain MRI, and identified increased volumes of amygdala, striatum, and pallidum on the global segmentation, and increased volumes of the lateral and medial parts of the central nucleus of the amygdala on the detail segmentation in Ptch heterozygous deletion mice. Our data may enhance comprehension of the association between brain morphogenic changes and hyperactivity in hedgehog signaling.

刺猬信号通路是一种高度保守的途径，它在形态发生、肿瘤发生、骨发生和伤口愈合过程中发挥着至关重要的作用。既往对戈林综合征患者的调查发现，患者表现出低危害规避特征，且大脑、小脑和脑室体积增加，这表明大脑形态与刺猬信号通路组成性过度激活之间存在关联。然而，就目前而言，关于上调刺猬信号通路中脑区体积变化的情况尚不明确。在本研究中，我们利用定量结构脑磁共振成像技术对大脑区域体积进行了全面调查，并在全局分割中确定了杏仁核、纹状体和苍白球的体积增加，以及在详细分割中杏仁核中央核的侧部和中部体积的增加，这些发现均见于Ptch杂合子缺失小鼠。我们的数据可能有助于加深对大脑形态变化与刺猬信号通路过度激活之间关联的理解。