Deng H, Wu Y, Jankovic J
Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.
Department of Clinical Laboratory, the Third Xiangya Hospital, Central South University, Changsha, China.
Acta Neurol Scand. 2015 Aug;132(2):73-8. doi: 10.1111/ane.12397. Epub 2015 Mar 13.
Variants in the EIF4G1 gene have been recently identified to be responsible for autosomal dominant PD (PARK18), but its role in the PD-related neurodegeneration is unclear. Several EIF4G1 mutation/variants were found to be associated with PD, and functional studies have suggested that these variants may impair the ability of cells to rapidly and dynamically respond to stress, thus probably participating in the development of PD, and these indicated that EIF4G1 variants may play an important role in pathogenicity of PD, although the frequency is low. Further studies involving large sample size of patients with PD from diverse populations, as well as studies of EIF4G1 expression and in scaffold function, are warranted.
最近已确定EIF4G1基因的变异与常染色体显性帕金森病（PARK18）有关，但其在帕金森病相关神经退行性变中的作用尚不清楚。发现几种EIF4G1突变/变异与帕金森病相关，功能研究表明这些变异可能损害细胞对压力快速动态反应的能力，从而可能参与帕金森病的发展，这表明EIF4G1变异可能在帕金森病的致病性中起重要作用，尽管其频率较低。有必要对来自不同人群的大量帕金森病患者进行进一步研究，以及对EIF4G1表达及其支架功能进行研究。
