Examination of the mGluR mTOR Pathway for the Identification of Potential Therapeutic Targets to Treat Fragile X

Abstract

Fragile X Syndrome (FXS) is a single gene disorder caused by loss of FMR1 gene function. This disease leads to cognitive impairment and is the most common genetic cause of autism, accounting for 2-6% of all diagnosed cases (Hagerman et al 2008). In previous studies of a Drosophila model for FXS, we identified pharmacological treatments that rescued phenotypes relevant to this syndrome such as social, neuroanatomical and cognitive deficits (McBride et al., 2005; Choi et al., 2010). These results have been translated to the mouse model of FXS leading to the impetus to initiate clinical trials with Fragile X patients (Yan et al., 2005; Dolen et al., 2007; de Vrij et al., 2008; Choi et al., 2011).

Open PDF

Document Details

Document Type
Technical Report
Publication Date
Oct 01, 2015
Accession Number
AD1002910

Entities

People

  • Thomas A. Jongens

Organizations

  • Perelman School of Medicine at the University of Pennsylvania

Tags

DTIC Thesaurus Topics

  • Alzheimer Disease
  • Cell Physiological Processes
  • Cells
  • Cognitive Impairment
  • Computer Vision
  • Diptera
  • Diseases And Disorders
  • Drosophila
  • Enzyme Inhibitors
  • Fragile-X Syndrome
  • Genes
  • Genetics
  • Intellectual Disability
  • Neurology
  • Object Recognition
  • Phenotypes
  • Proteins

Fields of Study

  • Biology

Readers

  • Gulf War Illness and Chronic Multisymptom Illness in Veterans.
  • Marine Ecological Systems Migration
  • Molecular Genetics

Technology Areas

  • Biotechnology