Fragile x syndrome and autism: from disease model to therapeutic targets

被引：37

作者：

Dolen, Gul ^{[1
,2
]}

Bear, Mark F. ^{[1
]}

机构：

[1] MIT, Dept Brain & Cognit Sci, Howard Hughes Med Inst, Picower Inst Learning & Memory, Cambridge, MA 02139 USA

[2] Brown Univ, Alpert Sch Med, Providence, RI 02912 USA

来源：

JOURNAL OF NEURODEVELOPMENTAL DISORDERS | 2009年 / 1卷 / 02期

关键词：

Fragile X; FXS; Metabotropic; Glutamate; Receptor; mglur; mglur5; FMRP; Fragile x mental retardation protein; Synaptic plasticity; Long term depression; LTD; Protein synthesis; Translation; Ocular; Dominance; Plasticity; Visual; Cortex; Hippocampus; Inhibitory avoidance; Passive avoidance; Extinction; Autism; HOMER; SHANK; Neuroligin; Neurexin; Tuberous sclerosis; TSC; TSC1; TSC2; Rett; MeCP; BDNF; PTEN; Hamartoma; Angelman; UBE3; Dendritic spine; Synapse; Development; Synapsopathy; Audiogenic seizure; Seizure; Mental retardation; Cognitive; Impairment; MENTAL-RETARDATION PROTEIN; METABOTROPIC GLUTAMATE RECEPTORS; LONG-TERM DEPRESSION; FMR1 KNOCKOUT MICE; PERVASIVE DEVELOPMENTAL DISORDERS; OCULAR DOMINANCE PLASTICITY; HIPPOCAMPAL AREA CA1; MOUSE MODEL; DENDRITIC SPINE; VISUAL-CORTEX;

D O I：

10.1007/s11689-009-9015-x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Autism is an umbrella diagnosis with several different etiologies. Fragile X syndrome (FXS), one of the first identified and leading causes of autism, has been modeled in mice using molecular genetic manipulation. These Fmr1 knockout mice have recently been used to identify a new putative therapeutic target, the metabotropic glutamate receptor 5 (mGluR5), for the treatment of FXS. Moreover, mGluR5 signaling cascades interact with a number of synaptic proteins, many of which have been implicated in autism, raising the possibility that therapeutic targets identified for FXS may have efficacy in treating multiple other causes of autism.

引用

页码：133 / 140

页数：8

共 145 条

[91] Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates [J].