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Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis
Zitieren Sie bitte immer diese URN: urn:nbn:de:bvb:20-opus-170004
- Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the CLN3 gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction and premature death. The consequences of CLN3 mutation on the progression of the disease, on neuronal transmission, and on central nervous network dysfunction are poorly understood. We used Cln3 knockout (Cln3\(^{Δex1-6}\)) mice and found increased anxiety-related behavior and impaired aversive learning as well asJuvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the CLN3 gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction and premature death. The consequences of CLN3 mutation on the progression of the disease, on neuronal transmission, and on central nervous network dysfunction are poorly understood. We used Cln3 knockout (Cln3\(^{Δex1-6}\)) mice and found increased anxiety-related behavior and impaired aversive learning as well as markedly affected motor function including disordered coordination. Patch-clamp and loose-patch recordings revealed severely affected inhibitory and excitatory synaptic transmission in the amygdala, hippocampus, and cerebellar networks. Changes in presynaptic release properties may result from dysfunction of CLN3 protein. Furthermore, loss of calbindin, neuropeptide Y, parvalbumin, and GAD65-positive interneurons in central networks collectively support the hypothesis that degeneration of GABAergic interneurons may be the cause of supraspinal GABAergic disinhibition.…
Autor(en): | Benedikt Grünewald, Maren D Lange, Christian Werner, Aet O'Leary, Andreas Weishaupt, Sandy Popp, David A Pearce, Heinz Wiendl, Andreas Reif, Hans C Pape, Klaus V Toyka, Claudia Sommer, Christian Geis |
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URN: | urn:nbn:de:bvb:20-opus-170004 |
Dokumentart: | Artikel / Aufsatz in einer Zeitschrift |
Institute der Universität: | Medizinische Fakultät / Neurologische Klinik und Poliklinik |
Medizinische Fakultät / Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie | |
Sprache der Veröffentlichung: | Englisch |
Titel des übergeordneten Werkes / der Zeitschrift (Englisch): | eLife |
Erscheinungsjahr: | 2017 |
Band / Jahrgang: | 6 |
Heft / Ausgabe: | e28685 |
Originalveröffentlichung / Quelle: | eLife 2017, 6:e28685. DOI: 10.7554/eLife.28685 |
DOI: | https://doi.org/10.7554/eLife.28685 |
Allgemeine fachliche Zuordnung (DDC-Klassifikation): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Freie Schlagwort(e): | CLN3; amygdala; hippocampus; mouse model; mutation; synaptic transmission |
Datum der Freischaltung: | 18.09.2019 |
Lizenz (Deutsch): | CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International |