Animal models for Coffin-Lowry syndrome: RSK2 and nervous system dysfunction

Please always quote using this URN: urn:nbn:de:bvb:20-opus-176799
  • Loss of function mutations in the rsk2 gene cause Coffin-Lowry syndrome (CLS), which is associated with multiple symptoms including severe mental disabilities. Despite the characterization of ribosomal S6 kinase 2 (RSK2) as a protein kinase acting as a downstream effector of the well characterized ERK MAP-kinase signaling pathway, it turns out to be a challenging task to link RSK2 to specific neuronal processes dysregulated in case of mutation. Animal models such as mouse and Drosophila combine advanced genetic manipulation tools with in vivoLoss of function mutations in the rsk2 gene cause Coffin-Lowry syndrome (CLS), which is associated with multiple symptoms including severe mental disabilities. Despite the characterization of ribosomal S6 kinase 2 (RSK2) as a protein kinase acting as a downstream effector of the well characterized ERK MAP-kinase signaling pathway, it turns out to be a challenging task to link RSK2 to specific neuronal processes dysregulated in case of mutation. Animal models such as mouse and Drosophila combine advanced genetic manipulation tools with in vivo imaging techniques, high-resolution connectome analysis and a variety of behavioral assays, thereby allowing for an in-depth analysis for gene functions in the nervous system. Although modeling mental disability in animal systems has limitations because of the complexity of phenotypes, the influence of genetic variation and species-specific characteristics at the neural circuit and behavioral level, some common aspects of RSK2 function in the nervous system have emerged, which will be presented. Only with this knowledge our understanding of the pathophysiology of CLS can be improved, which might open the door for development of potential intervention strategies.show moreshow less

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Metadaten
Author: Matthias Fischer, Thomas Raabe
URN:urn:nbn:de:bvb:20-opus-176799
Document Type:Journal article
Faculties:Medizinische Fakultät / Institut für Medizinische Strahlenkunde und Zellforschung
Medizinische Fakultät / Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie
Language:English
Parent Title (English):Frontiers in Behavioral Neuroscience
Year of Completion:2018
Volume:12
Issue:106
Source:Frontiers in Behavioral Neuroscience 2018, Volume 12, Article 106. DOI: 10.3389/fnbeh.2018.00106
DOI:https://doi.org/10.3389/fnbeh.2018.00106
Dewey Decimal Classification:5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie
Tag:Coffin-Lowry syndrome; Drosophila model; RSK2; behavior; mental disorders; mouse model; neuronal dysfunction
Release Date:2019/02/26
Collections:Open-Access-Publikationsfonds / Förderzeitraum 2018
Licence (German):License LogoCC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International