摘要
脆性X综合征(FXS)是一种遗传性智力低下疾病,其发病率仅次于21三体综合征.脆性X智力低下蛋白(FMRP)是FXS的关键性致病因子,该蛋白由脆性X智力低下基因1(FMR1)编码所得.FMR1在神经肌肉和睾丸组织中广泛表达.脆性X相关蛋白1(FXR1P)则是由FMR1的同源基因脆性X相关基因1(FXR1)编码所得,并且与蛋白质和RNAs之间存在着相互作用.许多疾病都涉及到FXR1表达的改变.为了了解FXR1P与CMAS(胞嘧啶单核苷酸-N-乙酰神经氨酸合成酶)相互作用所产生的的生物学效应,我们构建了FXR1的过表达载体,并观察其在PC12细胞(大鼠鼠肾上腺嗜铬细胞瘤细胞)和VSMC(血管平滑肌细胞)中的表达以及继而对于细胞形态和CMAS活性相关的许多细胞指标的效应.我们证实,FXR1基因的过表达可以提高PC12细胞中CMAS的活性,并对于该类细胞的生长提供一定程度的保护作用.PC12细胞是一种较为常见的用于研究神经系统疾病的细胞系.结论:我们推测FXR1P是一个组织特异调节因子,可以改变PC12细胞而非VSMC细胞中神经节苷酯(GM1)的浓度.
Fragile X syndrome （FXS） is a genetic mental retardation disease, with incidence second only to trisomy 21 syndrome. Fragile X mental retardation protein（FMRP）, is the causative factor of FXS and encoded by the Fragile X mental retardationl （FMR1） gene, which is widely expressed in cells of the nerve, muscle, and testes. Fragile X related protein 1 （FXR1P） is encoded by a homologous gene to FMR1 Fragile X related gene 1 （FXR1） and can interact with proteins and RNAs. Many illnesses were involved in the altered expression of FXR1. To understand the biological effect of the interaction between FXR1P and CMAS, we constructed a FXR1 overexpression vector and investigated its expression in PC12 （the rat pheochromocytoma） cells and VSMC （vascular smooth muscle cell） and the effect of the overexpression on cell morphology and several cell processes related to CMP-N-acetylneuraminic acid synthetase （CMAS） activity. We demonstrate that the overexpression ofFXR1 gene can increase activity of CMAS in PC12 cells and provide a certain degree growth protection for that cells. Thus, it suggests FXR1P is a tissue-specific regulator to alter the concentration of GM1 in PC12 cells, but not in VSMC.
出处
《生物化学与生物物理进展》
SCIE
CAS
CSCD
北大核心
2013年第11期1124-1131,共8页
Progress In Biochemistry and Biophysics
基金
supported by grants from The National Natural Science Foundation of China(81200881)
Hunan Provincial Natural Science Foundation of China(12JJ6073)~~
