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文章简介进行性核上性麻痹(Progressive Supranuclear Palsy,PSP)是一种以Tau蛋白异常聚集和缠结为特征的运动障碍疾病。迄今为止人们对该疾病的致病机制知之甚少。之前的研究发现单核苷酸突变(SNP)(rs1768208 C/T)是PSP发病的高风险因子。本研究通过对正常人和PSP患者的大脑样品进行检测,发现rs1768208 C/T中高的T等位基因频率与促凋亡蛋白appoptosin水平增高相关联,而appoptosin水平的增高与caspase-3的激活及caspase对tau蛋白的剪切相关。
Introduction Progressive Supranuclear Palsy (PSP) is a dyskinetic disorder characterized by abnormal aggregation and tangle of Tau proteins. To date, little is known about the pathogenesis of this disease. Previous studies have found that a single nucleotide mutation (SNP) (rs1768208 C / T) is a high risk factor for the pathogenesis of PSP. In this study, normal subjects and PSP patients were detected in brain samples and found that rs1768208 C / T in the high T allele frequency and apoptosis-promoting protein appoptosin levels were associated with increased levels of appoptosin and caspase-3 activation and Caspase is related to shearing of tau protein.