Division of Biomedical and Life Sciences, Faculty of Health and Medicine, Lancaster University, Lancaster LA1 4YQ, UK.
School of Biomedical Sciences, University of Leeds, Leeds LS2 9JT, UK.
Cereb Cortex. 2020 Apr 14;30(4):2358-2371. doi: 10.1093/cercor/bhz244.
2p16.3 deletions, involving heterozygous NEUREXIN1 (NRXN1) deletion, dramatically increase the risk of developing neurodevelopmental disorders, including autism and schizophrenia. We have little understanding of how NRXN1 heterozygosity increases the risk of developing these disorders, particularly in terms of the impact on brain and neurotransmitter system function and brain network connectivity. Thus, here we characterize cerebral metabolism and functional brain network connectivity in Nrxn1α heterozygous mice (Nrxn1α+/- mice), and assess the impact of ketamine and dextro-amphetamine on cerebral metabolism in these animals. We show that heterozygous Nrxn1α deletion alters cerebral metabolism in neural systems implicated in autism and schizophrenia including the thalamus, mesolimbic system, and select cortical regions. Nrxn1α heterozygosity also reduces the efficiency of functional brain networks, through lost thalamic "rich club" and prefrontal cortex (PFC) hub connectivity and through reduced thalamic-PFC and thalamic "rich club" regional interconnectivity. Subanesthetic ketamine administration normalizes the thalamic hypermetabolism and partially normalizes thalamic disconnectivity present in Nrxn1α+/- mice, while cerebral metabolic responses to dextro-amphetamine are unaltered. The data provide new insight into the systems-level impact of heterozygous Nrxn1α deletion and how this increases the risk of developing neurodevelopmental disorders. The data also suggest that the thalamic dysfunction induced by heterozygous Nrxn1α deletion may be NMDA receptor-dependent.
2p16.3 缺失,涉及异质型 NEUREXIN1(NRXN1)缺失,极大地增加了神经发育障碍的风险,包括自闭症和精神分裂症。我们对 NRXN1 杂合性如何增加这些疾病的风险知之甚少,特别是在对大脑和神经递质系统功能以及大脑网络连接的影响方面。因此,我们在这里描述了 Nrxn1α 杂合子(Nrxn1α+/- 小鼠)的大脑代谢和功能大脑网络连接,并评估了氯胺酮和右旋苯丙胺对这些动物大脑代谢的影响。我们发现,杂合性 Nrxn1α 缺失改变了与自闭症和精神分裂症相关的神经系统中的大脑代谢,包括丘脑、中边缘系统和选择性皮质区域。Nrxn1α 杂合性还通过失去丘脑“丰富俱乐部”和前额叶皮层(PFC)中枢连接以及通过减少丘脑- PFC 和丘脑“丰富俱乐部”区域相互连接性,降低了功能大脑网络的效率。亚麻醉剂量的氯胺酮可使 Nrxn1α+/- 小鼠的丘脑代谢亢进正常化,并部分使丘脑脱连接正常化,而右旋苯丙胺引起的大脑代谢反应则保持不变。这些数据为理解 Nrxn1α 杂合缺失对系统水平的影响以及这种影响如何增加神经发育障碍的风险提供了新的视角。这些数据还表明,异质型 Nrxn1α 缺失引起的丘脑功能障碍可能依赖于 NMDA 受体。