Project Details
Description
Fragile X syndrome (FXS) is the most common form of inherited human mental retardation and also the singlemost common known cause of autism. FXS results from an expansion of a CGG repeat sequence in the 5’untranslated region of the gene, which causes hypermethylation, transcriptional silencing, and a resultant loss of expression of the Fragile X mental retardation protein (FMRP) (Bailey et al., 1998). FMRP is a polyribosome associated RNA binding protein that regulates the translation of a large number of messenger RNAs, many of which encode for synaptic proteins (Darnell et al., 2011). Determining the consequences of loss of FMRP on gene regulation and protein synthesis is a work in progress, with several signaling pathways under investigation as potential therapeutic targets including those downstream of mGluR signaling: ERK and mTOR (Osterweil et al., 2010; Sharma et al., 2010). An alternative to targeting general pathways that regulate protein
synthesis in FXS has been to try to understand the outcome of the pleiotropic effects of FMRP loss on synaptic signaling. There has been a particular emphasis on the imbalance of excitatory and inhibitory transmission in cortical networks and critical period development of the sensory cortex.
Status | Finished |
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Effective start/end date | 6/1/15 → 5/31/17 |
Funding
- FRAXA Research Foundation (Agmt Letter Agmt 6/15/16)
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