Homing in on the Silenced Gene Behind Mental Retardation

Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors

scott submitted, created time 1 year 3 months (www.pnas.org)

Fragile X syndrome (FXS), a common inherited form of mental retardation, is caused by the functional absence of the fragile X mental retardation protein (FMRP), an RNA-binding protein that regulates the translation of specific mRNAs at synapses. Altered synaptic plasticity has been described in a mouse FXS model.

1 comment | Blog It | Email It | Keywords: fragile X syndrome mental retardation synapse FMRP FXS

Dysregulated Metabotropic Glutamate Receptor-Dependent Translation of AMPA Receptor and Postsynaptic Density-95 mRNAs at Synapses in a Mouse Model of Fragile X Syndrome

alpha submitted, created time 1 year 7 months (www.jneurosci.org)

"Fragile X syndrome, a common form of inherited mental retardation, is caused by the loss of fragile X mental retardation protein (FMRP), an mRNA binding protein that is hypothesized to regulate local mRNA translation in dendrites downstream of gp1 metabotropic glutamate receptors (mGluRs). "

Submit comment | Blog It | Email It | Keywords: fragile X syndrome fragile X mental retardation protein local protein synthesis synaptoneurosomes dendritic mRNA localization AMPA receptor postsynaptic density-95

2nd gene linked to fragile X retardation

BIOBOSS submitted, created time 1 year 8 months (www.sciencedaily.com)

Researchers in Florida have discovered a new gene that appears to contribute to fragile X syndrome, the major cause of genetic retardation.

Submit comment | Blog It | Email It | Keywords: fragile X syndrome

Presynaptic Fmr1 Genotype Influences the Degree of Synaptic Connectivity in a Mosaic Mouse Model of Fragile X Syndrome

medal submitted, created time 1 year 8 months (www.jneurosci.org)

"Almost all female and some male fragile X syndrome (FXS) patients are mosaic for expression of the FMR1 gene, yet all research in models of FXS has been in animals uniformly lacking Fmr1 expression."

Submit comment | Blog It | Email It | Keywords: Fmr1 FMRP mosaic whole cell fragile X syndrome autism CA3 connectivity hippocampus presynaptic

Fragile X Mental Retardation Protein Induces Synapse Loss through Acute Postsynaptic Translational Regulation

alpha submitted, created time 1 year 9 months (www.jneurosci.org)

"Fragile X syndrome, as well as other forms of mental retardation and autism, is associated with altered dendritic spine number and structure. Fragile X syndrome is caused by loss-of-function mutations in Fragile X mental retardation protein (FMRP), an RNA-binding protein that regulates protein synthesis in vivo."

Submit comment | Blog It | Email It | Keywords: Fragile X syndrome FMRP hippocampus synapse pruning translation