Assessment Of Glutamatergic Neurosystem In Fragile X Syndrome For Targeted Therapy

Abstract

The purpose of the proposed research is to examine the role of mGluR5 expression in the brain in relation to behavioral symptoms including anxiety, learning, memory and locomotor activity in adults with Fragile X syndrome and genetically-modified mice (FMR1 Knock Out) towards developing an improved neurobiological model of the disorder. To this end, the study will also evaluate the outcomes of therapeutic drugs in FMR1 Knock Out mice targeting mGluR5 to inhibit or enhance glutamate induced signaling. DTI and MEG will be used examine disruptions in structural and functional brain connectivity. Preliminary findings show no group differences of mGluR5 expression or in learning, memory, or general motor performance behaviors in the mice as a function of gender or diagnostic group, paving the way for examining modulations inmGluR5 expression and associated behavioral changes with gender or progression of disease. For human studies we have set-up working protocols for neuroimaging, acclimation, and clinical testing, and completed data collection (PET, MRI, DT Iand MEG) with two control subjects. Three patients with Fragile X have been also been scheduled. In the human data, uptake of [18F]FPEB shows regional correspondences with those seen in mouse data and is consistent with the existing literature.

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Document Details

Document Type
Technical Report
Publication Date
Jul 01, 2018
Accession Number
AD1055813

Entities

People

  • Anna-Liisa Brownell
  • Maria Mody

Organizations

  • Massachusetts General Hospital

Tags

Communities of Interest

  • Biomedical

DTIC Thesaurus Topics

  • Brain
  • Cerebellum
  • Cerebral Cortex
  • Diseases And Disorders
  • Electronic Mail
  • Fragile-X Syndrome
  • Geographic Regions
  • Glutamates
  • Health Services
  • Humanities
  • Institutional Review Board
  • Learning
  • Literature
  • Medical Personnel
  • Neuroimaging
  • Professional Development
  • Thalamus

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  • Neuroscience

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  • Biotechnology