Hu Yun-Qing, Liu Wei-Tang, Wu Yong, Hu Zhi-Bin, Tao Yun-Chao, Zhang Qiong, Chen Jia-Yin, Li Ming, Hu Ling, Ding Yu-Qiang
State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai, China.
Shanghai Institute of Infectious Disease and Biosecurity, Fudan University, Shanghai, China.
Brain Pathol. 2025 May;35(3):e13306. doi: 10.1111/bpa.13306. Epub 2024 Sep 18.
Schizophrenia (SZ) is a highly heritable mental disorder, and genome-wide association studies have identified the association between deleted in colorectal cancer (DCC) and SZ. Previous study has shown a lowered expression of DCC in the cerebral cortex of SZ patient. In this study, we identified novel single nucleotide polymorphisms (SNPs) of DCC statistically correlated with SZ. Based on these, we generated DCC conditional knockout (CKO) mice and explored behavioral phenotypes in these mice. We observed that deletion of DCC in cortical layer VI but not layer V led to deficits in fear and spatial memory, as well as defective sensorimotor gating revealed by the prepulse inhibition test (PPI). Critically, the defective sensorimotor gating could be restored by olanzapine, an antipsychotic drug. Furthermore, we found that the levels of p-AKT and p-GSK3α/β were decreased, which was responsible for impaired PPI in the DCC-deficient mice. Finally, the DCC-deficient mice also displayed reduced spine density of pyramidal neurons and disturbed delta-oscillations. Our data, for the first time, identified and explored downstream substrates and signaling pathway of DCC which supports the hypothesis that DCC is a SZ-related risky gene and when defective, may promote SZ-like pathogenesis and behavioral phenotypes in mice.
精神分裂症(SZ)是一种具有高度遗传性的精神障碍,全基因组关联研究已经确定了结直肠癌缺失基因(DCC)与SZ之间的关联。先前的研究表明,SZ患者大脑皮层中DCC的表达降低。在本研究中,我们鉴定出了与SZ具有统计学相关性的DCC新单核苷酸多态性(SNP)。基于此,我们构建了DCC条件性敲除(CKO)小鼠,并探究了这些小鼠的行为表型。我们观察到,在皮质VI层而非V层中敲除DCC会导致恐惧和空间记忆缺陷,以及前脉冲抑制试验(PPI)所揭示的感觉运动门控缺陷。至关重要的是,抗精神病药物奥氮平可以恢复有缺陷的感觉运动门控。此外,我们发现p-AKT和p-GSK3α/β的水平降低,这是DCC缺陷小鼠中PPI受损的原因。最后,DCC缺陷小鼠还表现出锥体神经元的棘密度降低以及δ振荡紊乱。我们的数据首次鉴定并探究了DCC的下游底物和信号通路,这支持了以下假设:DCC是一个与SZ相关的风险基因,当其功能缺陷时,可能会促进小鼠出现类似SZ的发病机制和行为表型。