Title |
The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro
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Published in |
BMC Medical Genomics, March 2012
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DOI | 10.1186/1471-2350-13-13 |
Pubmed ID | |
Authors |
Elisabetta Tabolacci, Filomena Pirozzi, Baltazar Gomez-Mancilla, Fabrizio Gasparini, Giovanni Neri |
Abstract |
Fragile X syndrome (FXS), the leading cause of inherited mental retardation, is due to expansion and methylation of a CGG sequence in the FMR1 gene, which result in its silencing and consequent absence of FMRP protein. This absence causes loss of repression of metabotropic glutamate receptor 5 (mGluR5)-mediated pathways resulting in the behavioral and cognitive impairments associated with FXS. In a randomized, double-blind trial it was recently demonstrated a beneficial effect of AFQ056, a selective inhibitor of metabotrobic glutamate receptor type 5 (mGluR5), on fully methylated FXS patients respect to partially methylated FXS ones. |
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