Omrani A, van der Vaart T, Mientjes E, van Woerden G M, Hojjati M R, Li K W, Gutmann D H, Levelt C N, Smit A B, Silva A J, Kushner S A, Elgersma Y
Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.
ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.
Mol Psychiatry. 2015 Nov;20(11):1311-21. doi: 10.1038/mp.2015.48. Epub 2015 Apr 28.
Cognitive impairments are a major clinical feature of the common neurogenetic disease neurofibromatosis type 1 (NF1). Previous studies have demonstrated that increased neuronal inhibition underlies the learning deficits in NF1, however, the molecular mechanism underlying this cell-type specificity has remained unknown. Here, we identify an interneuron-specific attenuation of hyperpolarization-activated cyclic nucleotide-gated (HCN) current as the cause for increased inhibition in Nf1 mutants. Mechanistically, we demonstrate that HCN1 is a novel NF1-interacting protein for which loss of NF1 results in a concomitant increase of interneuron excitability. Furthermore, the HCN channel agonist lamotrigine rescued the electrophysiological and cognitive deficits in two independent Nf1 mouse models, thereby establishing the importance of HCN channel dysfunction in NF1. Together, our results provide detailed mechanistic insights into the pathophysiology of NF1-associated cognitive defects, and identify a novel target for clinical drug development.
认知障碍是常见神经遗传性疾病1型神经纤维瘤病(NF1)的主要临床特征。先前的研究表明,神经元抑制增强是NF1学习缺陷的基础,然而,这种细胞类型特异性的分子机制仍不清楚。在这里,我们确定超极化激活的环核苷酸门控(HCN)电流在中间神经元中的特异性减弱是Nf1突变体中抑制增强的原因。从机制上讲,我们证明HCN1是一种新的与NF1相互作用的蛋白,NF1的缺失会导致中间神经元兴奋性随之增加。此外,HCN通道激动剂拉莫三嗪挽救了两个独立的Nf1小鼠模型中的电生理和认知缺陷,从而确立了HCN通道功能障碍在NF1中的重要性。总之,我们的结果为NF1相关认知缺陷的病理生理学提供了详细的机制见解,并确定了一个临床药物开发的新靶点。