Department of Neuroscience, Washington University School of Medicine, St. Louis, MO, 63110, USA.
MD-PhD Program, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Nat Commun. 2020 Dec 2;11(1):6164. doi: 10.1038/s41467-020-19915-2.
Familial hemiplegic migraine is an episodic neurological disorder characterized by transient sensory and motor symptoms and signs. Mutations of the ion pump α2-Na/K ATPase cause familial hemiplegic migraine, but the mechanisms by which α2-Na/K ATPase mutations lead to the migraine phenotype remain incompletely understood. Here, we show that mice in which α2-Na/K ATPase is conditionally deleted in astrocytes display episodic paralysis. Functional neuroimaging reveals that conditional α2-Na/K ATPase knockout triggers spontaneous cortical spreading depression events that are associated with EEG low voltage activity events, which correlate with transient motor impairment in these mice. Transcriptomic and metabolomic analyses show that α2-Na/K ATPase loss alters metabolic gene expression with consequent serine and glycine elevation in the brain. A serine- and glycine-free diet rescues the transient motor impairment in conditional α2-Na/K ATPase knockout mice. Together, our findings define a metabolic mechanism regulated by astrocytic α2-Na/K ATPase that triggers episodic motor paralysis in mice.
家族性偏瘫性偏头痛是一种发作性神经系统疾病,其特征为短暂的感觉和运动症状和体征。离子泵α2-Na/K ATPase 的突变导致家族性偏瘫性偏头痛,但α2-Na/K ATPase 突变导致偏头痛表型的机制仍不完全清楚。在这里,我们表明条件性缺失星形胶质细胞中α2-Na/K ATPase 的小鼠表现出阵发性瘫痪。功能神经影像学显示,条件性α2-Na/K ATPase 敲除会触发自发性皮质扩散性抑制事件,这些事件与这些小鼠中 EEG 低电压活动事件相关,与短暂的运动障碍相关。转录组学和代谢组学分析表明,α2-Na/K ATPase 的丧失改变了代谢基因的表达,导致脑中丝氨酸和甘氨酸的升高。无丝氨酸和甘氨酸饮食可挽救条件性α2-Na/K ATPase 敲除小鼠的短暂运动障碍。总之,我们的发现定义了一种由星形胶质细胞α2-Na/K ATPase 调节的代谢机制,该机制在小鼠中引发阵发性运动性瘫痪。