Inserm U614, Faculty of Medicine, Institute for Biomedical Research and Innovation, University of Rouen, 76000, Rouen, France.
J Alzheimers Dis. 2012;28(3):561-6. doi: 10.3233/JAD-2011-111148.
Several lines of evidence suggest that AβPP gene expression could influence risk for Alzheimer's disease (AD). Using a highly sensitive multiplex fluorescent RT-PCR assay, we compared peripheral blood cells expression of AβPP mRNA among sporadic AD patients (n = 133), autosomal dominant early-onset AD cases (ADEOAD, n = 21), Down syndrome patients (n = 21), AD patients with AβPP duplication (n = 9), patients with recent ischemic stroke (n = 25), and healthy controls (n = 58). Compared to healthy controls (median = 0.98), AβPP expression was not increased in sporadic AD patients (median = 1.01, p = 0.42) nor in ADEOAD patients (median = 0.96, p = 0.26). Down syndrome patients as well as patients with AβPP duplication had significantly increased levels of AβPP mRNA compared to controls (median = 1.48 and median = 1.36, p < 0.0001 and p = 0.0007, respectively). A weaker but significant increase in relative amount of AβPP transcripts in patients who suffered from recent stroke was observed (median = 1.14, p = 0.0007). Our results do not support a pathogenic role of AβPP overexpression in sporadic AD although a small subset of patients displays AβPP overexpression in the same range as Down syndrome patients.
有几条证据表明，AβPP 基因表达可能会影响阿尔茨海默病（AD）的风险。我们使用高度敏感的多重荧光 RT-PCR 检测方法，比较了散发性 AD 患者（n = 133）、常染色体显性早发型 AD 病例（AD 早发，n = 21）、唐氏综合征患者（n = 21）、携带 AβPP 重复的 AD 患者（n = 9）、近期发生缺血性中风的患者（n = 25）和健康对照者（n = 58）外周血细胞中 AβPP mRNA 的表达。与健康对照者（中位数 = 0.98）相比，散发性 AD 患者（中位数 = 1.01，p = 0.42）和 ADEOAD 患者（中位数 = 0.96，p = 0.26）的 AβPP 表达均未增加。唐氏综合征患者以及携带 AβPP 重复的患者的 AβPP mRNA 水平明显高于对照组（中位数 = 1.48 和中位数 = 1.36，p < 0.0001 和 p = 0.0007）。近期发生中风的患者的 AβPP 转录物的相对量也观察到较弱但显著的增加（中位数 = 1.14，p = 0.0007）。我们的结果不支持 AβPP 过度表达在散发性 AD 中的致病作用，尽管一小部分患者的 AβPP 表达范围与唐氏综合征患者相似。
