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皮质发生过程中的中间神经元迁移缺陷导致双特异性酪氨酸磷酸化调节激酶1A单倍剂量不足综合征的发病机制。

Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis.

作者信息

Hinckelmann Maria Victoria, Dubos Aline, Artot Victorine, Rudolf Gabrielle, Nguyen Thu Lan, Tilly Peggy, Nalesso Valérie, Muniz Moreno Maria Del Mar, Birling Marie-Christine, Godin Juliette D, Brault Véronique, Herault Yann

机构信息

Université de Strasbourg, Centre National de la Recherche Scientifique (CNRS) UMR7104, Institut National de la Santé et de la Recherche Médicale (INSERM) U1258, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch-Graffenstaden, F-67404, France.

CELPHEDIA, PHENOMIN Institut Clinique de la Souris (ICS), Illkirch-Graffenstaden, F-67000, France.

出版信息

Mol Psychiatry. 2025 Jul 10. doi: 10.1038/s41380-025-03109-7.

Abstract

Interneuron development is a crucial step of brain corticogenesis. When affected it often leads to brain dysfunctions like epilepsy, intellectual disabilities and autism spectrum disorder. Such defects are observed in the DYRK1A-haploinsufficiency syndrome, caused by mutations in DYRK1A, and commonly associated to cortical excitatory/inhibitory imbalance. However, how this imbalance is established in this syndrome remains elusive. Here, using mouse models and live imaging, we demonstrate that Dyrk1a specifically regulates the development of the cortical GABAergic system. We show that, unlike projection excitatory neurons, interneuron tangential migration relies on Dyrk1a dosage and kinase activity. We further reveal that Dyrk1a regulates actomyosin cytoskeleton remodeling during interneuron migration. Interestingly, mice with heterozygous inactivation of Dyrk1a in interneurons exhibited decreased interneuron density together with behavioral defects and epileptic activity, recapitulating phenotypes observed in human patients. Altogether, these data highlight the critical role of Dyrk1a in the development of the GABAergic system and the pathophysiology of DYRK1A-haploinsufficiency syndrome.

摘要

中间神经元的发育是大脑皮质发生的关键步骤。当这一过程受到影响时,常常会导致癫痫、智力障碍和自闭症谱系障碍等脑功能障碍。在由DYRK1A基因突变引起的DYRK1A单倍体不足综合征中可观察到此类缺陷,且这些缺陷通常与皮质兴奋/抑制失衡有关。然而,在该综合征中这种失衡是如何形成的仍不清楚。在此,我们利用小鼠模型和实时成像技术证明,Dyrk1a特异性地调节皮质GABA能系统的发育。我们发现,与投射性兴奋性神经元不同,中间神经元的切向迁移依赖于Dyrk1a的剂量和激酶活性。我们进一步揭示,Dyrk1a在中间神经元迁移过程中调节肌动球蛋白细胞骨架重塑。有趣的是,中间神经元中Dyrk1a杂合失活的小鼠表现出中间神经元密度降低,并伴有行为缺陷和癫痫活动,重现了在人类患者中观察到的表型。总之,这些数据突出了Dyrk1a在GABA能系统发育和DYRK1A单倍体不足综合征病理生理学中的关键作用。

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