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[Relevance of animal models in the study of human pathologies: a mouse model of Down syndrome].

Abstract
Animal models provide a simplified representation of biological systems impossible to study directly in the human being. Regarding genetic pathologies, mouse models are the most studied since they enable to reproduce in animals the mutation of the gene or genes responsible for the disease and to study the phenotypic consequences. Down syndrome is a genetic disorder arising from the presence of a third copy of the human chromosome 21 (Hsa21) and is characterized by different degrees of phenotypic alterations including morphological, cardiac, muscular, cerebral, motor and intellectual changes. This high phenotypic heterogeneity involves genetic and environmental effects, which are impossible to dissect out in human beings. Various models in mice have been developed in order to identify the genetic and neurobiological mechanisms responsible for Down syndrome. The Tc1 mouse is the most complete genetic animal model currently available to study Down syndrome, since it carries an almost complete Hsa 21. The behavioural and electrophysiological studies of this model reveal a great similarity between the animal phenotype and the Down syndrome symptomatology, consequently this model represents a powerful genetic tool with a potential to unravel the mechanisms underlying the deficiencies array characteristic of this human condition. In the long term, Tc1 mice will contribute to the development and the screening of new therapeutics, with the goal of improving all the impairments reported in Down syndrome.
AuthorsElise Morice
JournalBiologie aujourd'hui (Biol Aujourdhui) Vol. 204 Issue 1 Pg. 3-8 ( 2010) ISSN: 2105-0678 [Print] France
Vernacular TitleIntérêt des modèles animaux pour l'étude des pathologies humaines: exemple d'un modèle de souris pour la trisomie 21.
PMID20950569 (Publication Type: English Abstract, Journal Article)
Copyright© Société de Biologie, 2010.
Topics
  • Animals
  • Chromosomes, Human, Pair 21 (genetics)
  • Cognition Disorders (genetics)
  • Disease Models, Animal
  • Down Syndrome (genetics, pathology)
  • Humans
  • Mice
  • Neuronal Plasticity (genetics)
  • Phenotype
  • Reproducibility of Results

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