Potential therapeutic interventions for fragile X syndrome

被引：67

作者：

Levenga, Josien ^{[1
]}

de Vrij, Femke M. S. ^{[1
]}

Oostra, Ben A. ^{[1
]}

Willemsen, Rob ^{[1
]}

机构：

[1] Erasmus MC, CBG Dept Clin Genet, NL-3015 GE Rotterdam, Netherlands

来源：

TRENDS IN MOLECULAR MEDICINE | 2010年 / 16卷 / 11期

基金：

美国国家卫生研究院;

关键词：

MENTAL-RETARDATION PROTEIN; METABOTROPIC GLUTAMATE RECEPTORS; LONG-TERM POTENTIATION; MOUSE MODEL; SYNAPTIC PLASTICITY; KNOCKOUT MICE; GABA(A) RECEPTOR; DENDRITIC SPINES; AUDIOGENIC-SEIZURES; SPECTRUM DISORDERS;

D O I：

10.1016/j.molmed.2010.08.005

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Fragile X syndrome (FXS) is caused by a lack of the fragile X mental retardation protein (FMRP); FMRP deficiency in neurons of patients with FXS causes intellectual disability (IQ<70) and several behavioural problems, including hyperactivity and autistic-like features. In the brain, no gross morphological malformations have been found, although subtle spine abnormalities have been reported. FXS has been linked to altered group I metabotropic glutamate receptor (mGluR)-dependent and independent forms of synaptic plasticity. Here, we discuss potential targeted therapeutic strategies developed to specifically correct disturbances in the excitatory mGluR and the inhibitory gamma-aminobutyric (GABA) receptor pathways that have been tested in animal models and/or in clinical trials with patients with FXS.

引用

页码：516 / 527

页数：12

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