Activity-dependent regulation of genes implicated in X-linked non-specific mental retardation.

Abstract:

:X-linked forms of non-specific mental retardation are complex disorders, for which mutations in several genes have recently been identified. These include OPHN1, GDI1, PAK3, IL1RAPL, TM4SF2, FMR2 and RSK2. To investigate the mechanisms through which alterations of these gene products could result in cognitive impairment, we analyzed their expression using quantitative PCR technique in two in vitro models of activity-dependent gene regulation: kainate-induced seizures and long-term synaptic potentiation (LTP). We found that the level of expression of four genes, PAK3, IL1RAPL, RSK2 and TM4SF2, was significantly up-regulated following kainate treatment. Furthermore we observed a significant increase in mRNA levels of PAK3 and IL1RAPL following LTP induction. These results suggest a possible role for these four genes in activity-dependent brain plasticity.

journal_name

Neuroscience

journal_title

Neuroscience

authors

Boda B,Mas C,Muller D

doi

10.1016/s0306-4522(02)00218-x

keywords:

subject

Has Abstract

pub_date

2002-01-01 00:00:00

pages

13-7

issue

1

eissn

0306-4522

issn

1873-7544

pii

S030645220200218X

journal_volume

114

pub_type

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