Ullah Aman, Therrien Karen, Cressman John R, Kabbani Nadine
Interdiscplinary Program in Neuroscience, George Mason University, Fairfax, Virginia, United States of America.
School of Systems Biology, George Mason University, Fairfax, Virginia, United States of America.
PLoS One. 2025 Aug 29;20(8):e0330635. doi: 10.1371/journal.pone.0330635. eCollection 2025.
Human 15q13.3 microdeletion syndrome (15q13mds) is a genetic disorder caused by a heterozygous deletion of multiple genes, including the CHRNA7 gene, which encodes the α7 nicotinic acetylcholine receptor (α7 nAChR). This condition is associated with significant neurodevelopmental impairments and an increased risk of seizures, with studies indicating reduced α7 nAChR expression in affected individuals. To explore the role of α7 nAChR activity, we developed computational models of the thalamic reticular nucleus (TRN), a brain region critical for regulating thalamocortical (TC) oscillations involved in epilepsy and sleep-wake states. Using a single-compartment kinetic model of a TRN neuron embedded in a simplified thalamic network model, we demonstrate that α7 nAChR activity is necessary to modulate neuronal firing, through calcium regulation, and produce distinct wake and sleep-like states with the network. These findings suggest that α7 nAChR activity in the TRN modulates TC oscillations between sleep and wake states and can contribute to absence seizures in 15q13mds and other neurodevelopmental disorders.
人类15q13.3微缺失综合征(15q13mds)是一种由多个基因杂合缺失引起的遗传性疾病,其中包括编码α7烟碱型乙酰胆碱受体(α7 nAChR)的CHRNA7基因。这种疾病与显著的神经发育障碍和癫痫发作风险增加有关,研究表明受影响个体中α7 nAChR表达降低。为了探究α7 nAChR活性的作用,我们建立了丘脑网状核(TRN)的计算模型,丘脑网状核是一个对调节参与癫痫和睡眠-觉醒状态的丘脑皮质(TC)振荡至关重要的脑区。通过在简化的丘脑网络模型中嵌入TRN神经元的单室动力学模型,我们证明α7 nAChR活性对于通过钙调节来调节神经元放电是必要的,并且能够与网络一起产生不同的清醒和睡眠样状态。这些发现表明,TRN中的α7 nAChR活性调节睡眠和清醒状态之间的TC振荡,并可能导致15q13mds和其他神经发育障碍中的失神发作。