Exaggerated Cap-Dependent Translation as a Mechanism for Corticostriatal Dysfunction in Fragile X Syndrome Model Mice

Abstract

Our two laboratories Klann and Bagni - are committed to understanding the detailed molecular abnormalities associated with developmental disabilities and how these result in synaptic dysfunction and aberrant behavior. Our overall hypothesis is that repetitive and perseverative behaviors exhibited by FXS patients that can be recapitulated in the FXS model mice are caused by affected cortico-striatal synapses. To test this hypothesis, we propose two specific aims: 1) To determine cortico-striatal synaptic composition, function and plasticity in FXS model mice; 2) To determine whether altered cortico-striatal synaptic plasticity and repetitive/perseverative behaviors displayed by FXS model mice are reversed by novel cap-dependent translation inhibitors. Our specific tasks are centered on a proteomic study of FXS striatal synapses by using a transgenic mouse model that allows capturing native synapses. Purified synapse will be analyzed by mass spectrometry and the data will be validated using biochemical and cellular methods. The comparison of the synaptic proteome between the wild type and the FXS mice during development will identify which complexes are affected in FXS and possibly in other synaptopathies. These data will complement the electrophysiological and behavioral studies performed by the coordinator.

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Document Details

Document Type
Technical Report
Publication Date
Nov 01, 2018
Accession Number
AD1093661

Entities

People

  • Claudia Bagni

Organizations

  • University of Lausanne

Tags

DTIC Thesaurus Topics

  • Abnormalities
  • Brain Injuries
  • Department Of Defense
  • Diseases And Disorders
  • Dysfunction
  • Fragile-X Syndrome
  • Genetics
  • Intellectual Disability
  • Mass Spectrometry
  • Mass Spectroscopy
  • Neurodevelopmental Disorders
  • Plastic Properties
  • Proteins
  • Spectrometry
  • Spectroscopy
  • Synapses
  • Translations

Fields of Study

  • Biology

Readers

  • Marine Ecological Systems Migration
  • Molecular Biology and Genetics
  • Neuroscience

Technology Areas

  • Biotechnology