肉碱棕榈酰转移酶1A(carnitine palmitoyltrans-ferase 1A,CPT1A)缺乏症(OMIM#255120)是一种长链脂肪酸氧化障碍的常染色体隐性遗传疾病,由CPT1A基因(OMIM#600528)变异导致.CPT1A是长链脂肪酸进入线粒体进行β氧化的限速酶.当CPT1A缺乏症患者长期禁食或处于病理状态时,糖原贮备不足,肝脏线粒体脂肪酸β氧化提供能量被抑制,出现低血糖、肝性脑病等多系统症状[1].该疾病罕见,到目前为止,人类基因组突变数据库(Human Genome Mutation Database,HGMD)仅收录了41种突变(http://www.hgmd.cf.ac.uk/ ac/ gene.php?gene=CPT1A),多为点突变,本文首次报道了中国人群中1例外显子4～5纯合缺失的变异类型,丰富了该基因变异谱,并结合qPCR进行了验证.

Objective:To investigate the astrogliosis dynamic changes after spinal cord injury(SCI).Methods:The Astrocyte scratch wound model in vitro and rats SCI model was established.The changes of astrocyte morphology,proliferation and migration were observed at a series of time points(0,6,12,24,48,72 h) in astrocytic scratch wound model while the expression of pro-inflammatory cytokines TNF-α,IL-1βand IL-6 were investigated by ELISA method.The immunofluorescence staining and western blot methods were used to evaluate the expression of GFAP in rats after SCI.Results:At 12 h after scratch wound,hypertrophic astrocyte and proliferative astrocytes emerged at the scratch wound edge.Astrocyte became obviously hypertrophic and massively proliferated at 24 h.The soma became generally hypertrophic and the neurites obviously increased.A large number of astrocytes migrated to the epicenter of scratch wound at 48 h and proliferative and migratory astrocytes almost overlapped scratch wound and partly formed glial scar at 72 h.Meanwhile,the expressions of TNF-α,IL-1βand IL-6 were significant increased at 12 h(P<0.05)which continued to increase at 24 h,48 h and 72 h after scratch wound compared to control group(P<0.01).The expression of GFAP did not obviously increased at 1d after SCI,which began to increase after day 3 and reached the peak at 14 to 28 d after SCI.Conclusion:Astrocytosis is a continuous and general hallmark of pathophysiological process after SCI.

Objective: To investigate the effects of AG1478,an EGFR inhibitor,on the microenvironment of axonal regeneration after spinal cord injury(SCI).Methods: Sixty SD rats were randomly divided into the groups AG1478,control and the sham(n=20 respectively).Allen weight drop technique was used to make injury models.The SCI on rats was caused with 10 g×1.25 cm impact injury at T10.Then the rats in the AG1478 group were administrated locally with AG1478 while the rats in the sham and control groups were administrated with dimethylsulfoxid instead.The expressions of phosphorylated epidermal growth factor receptor(pEGFR),glial fibriliary acidic protein(GFAP),chondroitin sulphate proteoglycan(CSPGs) and growth associated protein-43(GAP-43) at days 7 and 14 after SCI were measured.The neural functions and the body weight recovery were observed at day 1,and weeks 1,2,4,6 and 8 after SCI.Results: The expressions of pEGFR,GFAP and CSPGs in the AG1478 group were significantly lower than that in the control group(P<0.01),while the expression of GAP-43 in the AG1478 group was significantly higher than that in the control group(P<0.01). The BBB scores in the AG1478 group were significantly higher than that in the control group(P<0.01) and the body weight in the AG1478 group increased more quickly than that in the control group(P<0.05).Conclusion: Administration of AG1478 promotes the neural functions recovery by improving the microenvironment of axonal regeneration after SCI.

中枢神经系统损伤后,星形胶质细胞明显活化增生,形成反应性星形胶质增生。这一病理改变在中枢神经系统损伤后的早期可能起一定的保护作用,但最终形成致密的胶质瘢痕,阻碍了再生轴突的延伸及正确寻靶,并分泌多种神经再生抑制因子,进一步阻碍神经的再生和修复。在恰当的时期对反应性星形胶质增生进行适度干预是治疗中枢神经系统损伤的重要研究方向。