Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches

Behav Pharmacol. 2008 Sep;19(5-6):501-17. doi: 10.1097/FBP.0b013e32830c3645.

Abstract

Rett syndrome (RTT) is a neurodevelopmental disorder, primarily affecting girls. RTT causes severe cognitive, social, motor and physiological impairments and no cure currently exists. The discovery of a monogenic origin for RTT and the subsequent generation of RTT mouse models provided a major breakthrough for RTT research. Although the characterization of these mutant mice is far from complete, they recapitulate several RTT symptoms. This review provides an overview of the behavioural domains so far investigated in these models, including the very few mouse data concerning the developmental course of RTT. Both clinical and animal studies support the presence of early defects and highlight the importance of probing the presymptomatic phase for both the precocious identification of biomarkers and the early assessment of potential therapies. Preclinical evaluations of pharmacological and nonpharmacological interventions so far carried out are also illustrated. In addition, genetic manipulations are reported that demonstrate rescue from the damage caused by the absence of the methyl-CpG-binding protein 2 (MeCP2) gene even at a mature stage. Given the rare occurrence of RTT cases, transnational collaborative networks are expected to provide a deeper understanding of aetiopathology and the development of new therapeutic approaches.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Brain / metabolism
  • Desipramine / pharmacology
  • Disease Models, Animal*
  • Drug Evaluation, Preclinical
  • Epigenesis, Genetic
  • Female
  • Genetic Therapy
  • Humans
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Mice
  • Mice, Transgenic
  • Phenotype*
  • Psychotropic Drugs / pharmacology*
  • Rett Syndrome / diagnosis
  • Rett Syndrome / genetics*
  • Rett Syndrome / therapy
  • alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid / agonists

Substances

  • Mecp2 protein, mouse
  • Methyl-CpG-Binding Protein 2
  • Psychotropic Drugs
  • alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid
  • Desipramine