Rates of protein synthesis are reduced in peripheral blood mononuclear cells (PBMCs) from fragile X individuals.

ABSTRACT:

Background

Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability and is caused by the loss of expression of the Fragile X mental retardation protein (FMRP). In animal model of FXS, the absence of FMRP leads to an aberrant rate of neuronal protein synthesis, which in turn is believed to be at the origin of defects regarding spine morphology and synaptic plasticity. Normalisation of protein synthesis in these models has been associated with a rescue of FXS behavioral and biochemicals phenotype, thus establishing the rate of protein synthesis as one of the most promising monitoring biomarker for FXS. However, rate of protein synthesis alteration in fragile X individuals is not well characterized.

Method

We applied a robust radiolabeled assay to meas

SUBMITTER: Dionne O 

PROVIDER: S-EPMC8112704 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature