Department of Psychiatry, Division of Neuroscience Research, University of Minnesota Medical School, 420 Delaware St SE, MMC 392, Minneapolis, MN 55455, USA.
Neuropharmacology. 2011 Jun;60(7-8):1221-6. doi: 10.1016/j.neuropharm.2010.11.011. Epub 2010 Nov 22.
Fragile X mental retardation protein (FMRP) is highly enriched in neurons and binds to approximately 4% of mRNAs in mammalian brain. Its loss is a hallmark of fragile X syndrome (FXS), the most common form of mental retardation. In this review we discuss the mutation in the fragile X mental retardation-1 gene (FMR1), that leads to FXS, the role FMRP plays in neuronal cells, experiments from our own laboratory that demonstrate reductions of FMRP in additional psychiatric disorders (autism, schizophrenia, bipolar disorder, and major depressive disorder), and potential therapies to ameliorate the loss of FMRP. This article is part of a Special Issue entitled 'Trends in neuropharmacology: in memory of Erminio Costa'.
脆性 X 智力低下蛋白 (FMRP) 在神经元中高度富集,并与哺乳动物大脑中约 4%的 mRNA 结合。其缺失是脆性 X 综合征 (FXS) 的标志,FXS 是最常见的智力低下形式。在这篇综述中,我们讨论了导致 FXS 的脆性 X 智力低下 1 基因 (FMR1) 的突变,FMRP 在神经元细胞中的作用,我们自己实验室的实验表明,FMRP 在其他精神疾病(自闭症、精神分裂症、双相情感障碍和重度抑郁症)中减少,以及改善 FMRP 缺失的潜在治疗方法。本文是特刊“神经药理学趋势:纪念 Erminio Costa”的一部分。