Delabio Roger, Rasmussen Lucas, Mizumoto Igor, Viani Gustavo-Arruda, Chen Elizabeth, Villares João, Costa Isabela-Bazzo, Turecki Gustavo, Linde Sandra Aparecido, Smith Marilia Cardoso, Payão Spencer-Luiz
Faculdade de Medicina de Marília, São Paulo, Brazil.
Universidades do Sagrado Coração, Bauru, São Paulo, Brazil.
J Alzheimers Dis. 2014;42(3):757-60. doi: 10.3233/JAD-140033.
Presenilin 1 (PSEN1) and presenilin 2 (PSEN2) genes encode the major component of y-secretase, which is responsible for sequential proteolytic cleavages of amyloid precursor proteins and the subsequent formation of amyloid-β peptides. 150 RNA samples from the entorhinal cortex, auditory cortex and hippocampal regions of individuals with Alzheimer's disease (AD) and controls elderly subjects were analyzed with using real-time rtPCR. There were no differences between groups for PSEN1 expression. PSEN2 was significantly downregulated in the auditory cortex of AD patients when compared to controls and when compared to other brain regions of the patients. Alteration in PSEN2 expression may be a risk factor for AD.
早老素1（PSEN1）和早老素2（PSEN2）基因编码γ-分泌酶的主要成分，γ-分泌酶负责淀粉样前体蛋白的顺序蛋白水解切割以及随后淀粉样β肽的形成。使用实时逆转录聚合酶链反应（rtPCR）分析了来自阿尔茨海默病（AD）患者和对照老年受试者的内嗅皮质、听觉皮质和海马区的150个RNA样本。PSEN1表达在两组之间没有差异。与对照组以及与患者的其他脑区相比，AD患者听觉皮质中的PSEN2显著下调。PSEN2表达的改变可能是AD的一个危险因素。
