Pretto Dalyir I, Kumar Madhur, Cao Zhengyu, Cunningham Christopher L, Durbin-Johnson Blythe, Qi Lihong, Berman Robert, Noctor Stephen C, Hagerman Randi J, Pessah Isaac N, Tassone Flora
Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, CA, USA; Department of Psychiatry and Behavioral Sciences, University of California Davis Medical Center, Sacramento, CA, USA.
Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, CA, USA.
Neurobiol Aging. 2014 May;35(5):1189-97. doi: 10.1016/j.neurobiolaging.2013.11.009. Epub 2013 Nov 16.
A premutation (PM) expansion (55-200 CGG) in the fragile X mental retardation gene 1 causes elevated messenger RNA and reduced fragile X mental retardation gene 1 protein. Young PM carriers can develop characteristic physical features and mild cognitive disabilities. In addition, individuals with PM, particularly male carriers, are at high risk to develop fragile X-associated tremor/ataxia syndrome (FXTAS) with aging. Human postmortem FXTAS brains show extensive white matter disease in the cerebellum and the presence of intranuclear inclusions throughout the brain, although their etiologic significance is unknown. In the current work, expression levels of the metabotropic glutamate (Glu) receptor 5 and the Glu transporter excitatory amino acid transporter 1, examined by reverse transcription polymerase chain reaction and western blot analyses, were found to be reduced in the postmortem cerebellum of PM carriers with FXTAS compared with age matched controls, with higher CGG repeat number having greater reductions in both proteins. These data suggests a dysregulation of Glu signaling in PM carriers, which would likely contribute to the development and severity of FXTAS.
脆性X智力低下基因1中的前突变(PM)扩展(55 - 200个CGG)会导致信使核糖核酸水平升高和脆性X智力低下基因1蛋白减少。年轻的PM携带者可能会出现特征性身体特征和轻度认知障碍。此外,患有PM的个体,尤其是男性携带者,随着年龄增长有患脆性X相关震颤/共济失调综合征(FXTAS)的高风险。人类FXTAS尸检大脑显示小脑有广泛的白质病变,且全脑存在核内包涵体,尽管其病因学意义尚不清楚。在当前研究中,通过逆转录聚合酶链反应和蛋白质免疫印迹分析检测发现,与年龄匹配的对照组相比,患有FXTAS的PM携带者尸检小脑代谢型谷氨酸(Glu)受体5和Glu转运体兴奋性氨基酸转运体1的表达水平降低,CGG重复数越高,这两种蛋白质的减少幅度越大。这些数据表明PM携带者中Glu信号传导失调,这可能会导致FXTAS的发生和严重程度。