RGD Reference Report - Regulation of GABAA receptors by fragile X mental retardation protein. - Rat Genome Database

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Regulation of GABAA receptors by fragile X mental retardation protein.

Authors: Liu, Baosong  Li, Lijun  Chen, Juan  Wang, Zefen  Li, Zhiqiang  Wan, Qi 
Citation: Liu B, etal., Int J Physiol Pathophysiol Pharmacol. 2013 Sep 10;5(3):169-76. eCollection 2013.
RGD ID: 12802358
Pubmed: PMID:24044036   (View Abstract at PubMed)
PMCID: PMC3773076   (View Article at PubMed Central)

Fragile X syndrome (FXS) is caused by the loss of fragile X mental retardation protein (FMRP). The deficiency of GABAA receptors (GABAARs) is implicated in FXS. However, the underlying mechanisms remain unclear. To investigate the effect of FMRP on GABAARs, we transfected FMRP cDNAs in rat cortical neurons. We measured the protein expression of GABAARs and phosphatase PTEN, and recorded GABAAR-mediated whole-cell currents in the transfected neurons. We show that the transfection of FMRP cDNAs causes increased protein expression of GABAARs in cortical neurons, but GABAAR-mediated whole-cell currents are not potentiated by FMRP transfection. These results suggest the possibility that intracellular signaling antagonizing GABAAR activity may play a role in inhibiting GABAAR function in FMRP-transfected neurons. We further show that FMRP transfection results in an enhanced protein expression of PTEN, which contributes to the inhibition of GABAAR function in FMRP-transfected neurons. These results indicate that GABAARs are regulated by FMRP through both an up-regulation of GABAAR expression and a PTEN enhancement-induced inhibition of GABAAR function, suggesting that an abnormal regulation of GABAAR and PTEN by the loss of FMRP underlies the pathogenesis of FXS.

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
negative regulation of signaling receptor activity  IMP 12802358GABA A receptorsRGD 

Objects Annotated

Genes (Rattus norvegicus)
Pten  (phosphatase and tensin homolog)


Additional Information