Heulens Inge, D'Hulst Charlotte, Braat Sien, Rooms Liesbeth, Kooy R Frank
Department of Medical Genetics, University of Antwerp, Belgium.
ScientificWorldJournal. 2010 Nov 4;10:2198-206. doi: 10.1100/tsw.2010.211.
Many drugs have been developed that are able to modulate the GABAergic system, which is involved in anxiety, depression, epilepsy, insomnia, and learning and memory. The recent observation that the GABA(A) receptor is underexpressed in the fragile X syndrome, an inherited mental retardation disorder, therefore raised hopes for targeted therapy of the disorder. This review summarizes the lines of evidence that demonstrate a malfunction of the GABAergic system. The GABAergic system clearly emerges as an attractive target for therapy of the fragile X syndrome, and thus provides an excellent example of how genetic research can lead to unique opportunities for treatment.
已经研发出了许多能够调节γ-氨基丁酸(GABA)能系统的药物,该系统与焦虑、抑郁、癫痫、失眠以及学习和记忆有关。最近有观察发现,在脆性X综合征(一种遗传性智力障碍疾病)中,GABA(A)受体表达不足,因此人们对该疾病的靶向治疗充满了希望。这篇综述总结了证明GABA能系统功能失调的证据。GABA能系统显然成为脆性X综合征治疗的一个有吸引力的靶点,从而提供了一个很好的例子,说明基因研究如何能够带来独特的治疗机会。