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). The fact that clinical trials of two distinct compounds identified in flies and tested in mice have reported some level of efficacy highlights the relevance of Drosophila and mouse-based disease modeling to identify potential treatments for developmental brain disorders and other diseases (Berry-Kravis et al., 2008; Berry-Kravis et al., 2009).
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2014
- Accession Number
- ADA612771
Entities
People
- Thomas A. Jongens
Organizations
- University of Pennsylvania