CNR Institute of Neuroscience and Department of Medical Biotechnology and Translational Medicine, University of Milan, Via Vanvitelli 32, 20129 Milano, Italy.
CNR Institute of Neuroscience and Department of Medical Biotechnology and Translational Medicine, University of Milan, Via Vanvitelli 32, 20129 Milano, Italy; Neuromuscular Diseases and Neuroimmunology, Neurological Institute Foundation Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Eur J Pharmacol. 2013 Nov 5;719(1-3):112-116. doi: 10.1016/j.ejphar.2013.07.023. Epub 2013 Jul 17.
Intellectual disability syndromes have been found associated to numerous mutated genes that code for proteins functionally involved in synapse formation, the regulation of dendritic spine morphology, the regulation of the synaptic cytoskeleton or the synthesis and degradation of specific synapse proteins. These studies have strongly demonstrated that even mild alterations in synapse morphology and function give rise to mild or severe alteration in intellectual abilities. Interestingly, pharmacological agents that are able to counteract these morphological and functional synaptic anomalies can also improve the symptoms of some of these conditions. This review is summarizing recent discoveries on the functions of some of the genes responsible for intellectual disability syndromes connected with synapse dysfunctions.
智力障碍综合征与许多突变基因有关，这些基因编码的蛋白质在突触形成、树突棘形态调节、突触细胞骨架调节或特定突触蛋白的合成和降解中具有功能。这些研究强烈表明，即使突触形态和功能的轻微改变也会导致智力能力的轻度或重度改变。有趣的是，能够抵消这些形态和功能突触异常的药理学药物也可以改善其中一些病症的症状。这篇综述总结了与突触功能障碍相关的智力障碍综合征的一些基因的功能的最新发现。
