Excess protein synthesis in FXS patient lymphoblastoid cells can be rescued with a p110β-selective inhibitor.

ABSTRACT: The fragile X mental retardation protein (FMRP) plays a key role for neurotransmitter-mediated signaling upstream of neuronal protein synthesis. Functional loss of FMRP causes the inherited intellectual disability fragile X syndrome (FXS), and leads to increased and stimulus-insensitive neuronal protein synthesis in FXS animal models. Previous studies suggested that excess protein synthesis mediated by dysregulated signal transduction contributes to the majority of neurological defects in FXS, and might be a promising target for therapeutic strategies in patients. However, possible impairments in receptor-dependent protein synthesis have not been evaluated in patient cells so far. Using quantitative fluorescent metabolic labeling, we demonstrate that protein synthesis is exaggerated and ca

SUBMITTER: Gross C 

PROVIDER: S-EPMC3356413 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature