Smurfit Institute of Genetics, Trinity College Dublin, Dublin, 2, Ireland.
FutureNeuro, Science Foundation Ireland Research Centre for Chronic and Rare Neurological Diseases, Royal College of Surgeons in Ireland, University of Medicine and Health Sciences, Dublin, Ireland.
Nat Commun. 2022 Apr 14;13(1):2003. doi: 10.1038/s41467-022-29657-y.
Blood-brain barrier (BBB) dysfunction is associated with worse epilepsy outcomes however the underlying molecular mechanisms of BBB dysfunction remain to be elucidated. Tight junction proteins are important regulators of BBB integrity and in particular, the tight junction protein claudin-5 is the most enriched in brain endothelial cells and regulates size-selectivity at the BBB. Additionally, disruption of claudin-5 expression has been implicated in numerous disorders including schizophrenia, depression and traumatic brain injury, yet its role in epilepsy has not been fully deciphered. Here we report that claudin-5 protein levels are significantly diminished in surgically resected brain tissue from patients with treatment-resistant epilepsy. Concomitantly, dynamic contrast-enhanced MRI in these patients showed widespread BBB disruption. We show that targeted disruption of claudin-5 in the hippocampus or genetic heterozygosity of claudin-5 in mice exacerbates kainic acid-induced seizures and BBB disruption. Additionally, inducible knockdown of claudin-5 in mice leads to spontaneous recurrent seizures, severe neuroinflammation, and mortality. Finally, we identify that RepSox, a regulator of claudin-5 expression, can prevent seizure activity in experimental epilepsy. Altogether, we propose that BBB stabilizing drugs could represent a new generation of agents to prevent seizure activity in epilepsy patients.
血脑屏障(BBB)功能障碍与癫痫预后较差有关,但 BBB 功能障碍的潜在分子机制仍有待阐明。紧密连接蛋白是 BBB 完整性的重要调节剂,特别是紧密连接蛋白 Claudin-5 在脑内皮细胞中含量最丰富,调节 BBB 的大小选择性。此外,Claudin-5 表达的破坏与许多疾病有关,包括精神分裂症、抑郁症和创伤性脑损伤,但它在癫痫中的作用尚未完全阐明。在这里,我们报告说,在治疗抵抗性癫痫患者手术切除的脑组织中 Claudin-5 蛋白水平显著降低。同时,这些患者的动态对比增强 MRI 显示广泛的 BBB 破坏。我们表明,Claudin-5 在海马体中的靶向破坏或 Claudin-5 在小鼠中的基因杂合性会加剧海人酸诱导的癫痫发作和 BBB 破坏。此外,在小鼠中诱导 Claudin-5 的敲低会导致自发性复发性癫痫发作、严重的神经炎症和死亡。最后,我们确定 RepSox,一种 Claudin-5 表达的调节剂,可以预防实验性癫痫中的癫痫发作。总之,我们提出 BBB 稳定药物可能代表预防癫痫患者癫痫发作的新一代药物。