Experimental Neurophysiology, German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
Institute for Molecular and Behavioral Neuroscience, University of Cologne, Cologne, Germany.
Nat Med. 2015 Dec;21(12):1436-44. doi: 10.1038/nm.3987. Epub 2015 Nov 23.
The nervous system is vulnerable to perturbations during specific developmental periods. Insults during such susceptible time windows can have long-term consequences, including the development of neurological diseases such as epilepsy. Here we report that a pharmacological intervention timed during a vulnerable neonatal period of cortical development prevents pathology in a genetic epilepsy model. By using mice with dysfunctional Kv7 voltage-gated K(+) channels, which are mutated in human neonatal epilepsy syndromes, we demonstrate the safety and efficacy of the sodium-potassium-chloride cotransporter NKCC1 antagonist bumetanide, which was administered during the first two postnatal weeks. In Kv7 current-deficient mice, which normally display epilepsy, hyperactivity and stereotypies as adults, transient bumetanide treatment normalized neonatal in vivo cortical network and hippocampal neuronal activity, prevented structural damage in the hippocampus and restored wild-type adult behavioral phenotypes. Furthermore, bumetanide treatment did not adversely affect control mice. These results suggest that in individuals with disease susceptibility, timing prophylactically safe interventions to specific windows during development may prevent or arrest disease progression.
神经系统在特定的发育时期容易受到干扰。在这些易感时期受到的伤害可能会产生长期后果,包括癫痫等神经系统疾病的发展。在这里,我们报告称,在皮质发育的易损新生儿期进行药理学干预可以预防遗传性癫痫模型的病理。通过使用 Kv7 电压门控 K(+)通道功能失调的小鼠,这些通道在人类新生儿癫痫综合征中发生突变,我们证明了 NKCC1 拮抗剂布美他尼的安全性和有效性,该药物在出生后的前两周内给药。在 Kv7 电流缺陷型小鼠中,正常情况下会表现出癫痫、成年期多动和刻板行为,短暂的布美他尼治疗可使新生儿体内皮质网络和海马神经元活动正常化,防止海马结构损伤,并恢复野生型成年行为表型。此外,布美他尼治疗对对照小鼠没有不良影响。这些结果表明,在具有疾病易感性的个体中,预防性地在发育的特定窗口期进行安全干预可能预防或阻止疾病进展。