Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model

Tuberous sclerosis complex (TSC), caused by dominant mutations in either TSC1 or TSC2 tumour suppressor genes is characterized by the presence of brain malformations, the cortical tubers that are thought to contribute to the generation of pharmacoresistant epilepsy. Here we report that tuberless het...

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Veröffentlicht in:	Nature communications 2014-08, Vol.5 (1), p.4563
Hauptverfasser:	Lozovaya, N., Gataullina, S., Tsintsadze, T., Tsintsadze, V., Pallesi-Pocachard, E., Minlebaev, M., Goriounova, N. A., Buhler, E., Watrin, F., Shityakov, S., Becker, A. J., Bordey, A., Milh, M., Scavarda, D., Bulteau, C., Dorfmuller, G., Delalande, O., Represa, A., Cardoso, C., Dulac, O., Ben-Ari, Y., Burnashev, N.
Format:	Artikel
Sprache:	eng
Schlagworte:	13 13/1 13/109 13/44 14/19 14/34 14/35 38 38/109 38/22 38/77 38/90 42 631/208/2489/144 631/378/1689 631/378/1689/178 64/110 9/74 Action Potentials - drug effects Animals Anticonvulsants - pharmacology Disease Models, Animal Electroencephalography Epilepsy - drug therapy Epilepsy - genetics Epilepsy - metabolism Epilepsy - pathology Gene Expression Regulation Heterozygote Humanities and Social Sciences Humans Male Mice Mice, Transgenic Microtomy multidisciplinary Neocortex - drug effects Neocortex - metabolism Neocortex - pathology Patch-Clamp Techniques Pyrazoles - pharmacology Quinolones - pharmacology Receptors, N-Methyl-D-Aspartate - antagonists & inhibitors Receptors, N-Methyl-D-Aspartate - genetics Receptors, N-Methyl-D-Aspartate - metabolism Science Science (multidisciplinary) Signal Transduction Tissue Culture Techniques TOR Serine-Threonine Kinases - genetics TOR Serine-Threonine Kinases - metabolism Tuberous Sclerosis - drug therapy Tuberous Sclerosis - genetics Tuberous Sclerosis - metabolism Tuberous Sclerosis - pathology Tumor Suppressor Proteins - deficiency Tumor Suppressor Proteins - genetics
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Zusammenfassung:	Tuberous sclerosis complex (TSC), caused by dominant mutations in either TSC1 or TSC2 tumour suppressor genes is characterized by the presence of brain malformations, the cortical tubers that are thought to contribute to the generation of pharmacoresistant epilepsy. Here we report that tuberless heterozygote Tsc1 +/− mice show functional upregulation of cortical GluN2C-containing N-methyl-D-aspartate receptors (NMDARs) in an mTOR-dependent manner and exhibit recurrent, unprovoked seizures during early postnatal life (
ISSN:	2041-1723
DOI:	10.1038/ncomms5563