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PMID: 25917366 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1.

Molecular psychiatry ·Vol. 20 ·No. 11 ·2015-11-00 ·页码 1311-21

Omrani A, van der Vaart T, Mientjes E, van Woerden GM, Hojjati MR, Li KW, Gutmann DH, Levelt CN, Smit AB, Silva AJ, Kushner SA, Elgersma Y

Abstract

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.

MeSH 主题词
Animals Cognition Disorders/drug therapy,etiology,genetics,metabolism Disease Models, Animal Excitatory Amino Acid Antagonists/therapeutic use Excitatory Postsynaptic Potentials/drug effects,genetics Hippocampus/cytology Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/genetics,metabolism Lamotrigine Male Maze Learning/drug effects,physiology Mice Mice, Inbred C57BL Mice, Transgenic Motor Activity/drug effects,genetics Mutation/genetics Neural Inhibition/drug effects,genetics Neurofibromatosis 1/complications,genetics Neurofibromin 1/genetics,metabolism Neuronal Plasticity/drug effects,genetics Neurons/drug effects,metabolism Potassium Channels/genetics,metabolism Pyrimidines/pharmacology Signal Transduction/drug effects,genetics Triazines/therapeutic use
化学物质
Excitatory Amino Acid Antagonists Hcn1 protein, mouse Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels Neurofibromin 1 Potassium Channels Pyrimidines Triazines ICI D2788 Lamotrigine
作者与单位
共 12 位作者,点击展开单位 / ORCID
Omrani A
Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands. | ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.
van der Vaart T
Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands. | ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands. | Department of Pediatrics, Erasmus Medical Center, Sophia Children's Hospital, Rotterdam, The Netherlands.
Mientjes E
Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands. | ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.
van Woerden G M
Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands. | ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.
Hojjati M R
Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands. | Department of Physiology, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Li K W
Department of Molecular and Cellular Neurobiology, CNCR, Neuroscience Campus Amsterdam, VU University, Amsterdam, The Netherlands.
Gutmann D H
Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
Levelt C N
Department of Molecular Visual Plasticity, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam, The Netherlands.
Smit A B
Department of Molecular and Cellular Neurobiology, CNCR, Neuroscience Campus Amsterdam, VU University, Amsterdam, The Netherlands.
Silva A J
Department of Neurobiology, Brain Research Institute, University of California Los Angeles, Los Angeles, CA, USA.
Kushner S A
ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands. | Department of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.
Elgersma Y
Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands. | ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.
Article Info
Journal
Molecular psychiatry
Abbr.
Mol Psychiatry
ISSN
1476-5578
Published
2015-11-00
电子出版
2015-00-28
页码
1311-21
Language
English
Country/Region
England
NLM ID
9607835
基金资助
NIMH NIH HHS · R01 MH084315 · United States
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