Johnston J A, Froelich S, Lannfelt L, Cowburn R F
Department of Clinical Neuroscience and Family Medicine, Karolinska Institute, Huddinge, Sweden.
FEBS Lett. 1996 Oct 7;394(3):279-84. doi: 10.1016/0014-5793(96)00969-6.
The presenilin-1 (PS-1) gene on chromosome 14 carries mutations which cosegregate with early-onset familial Alzheimer's disease. We quantified PS-1 mRNA in post-mortem mid-temporal and superior frontal cortices from 14 Alzheimer's disease subjects, 9 non-demented controls and 5 subjects with other neurological diseases using solution hybridisation-RNase protection assay. APP and APLP2 mRNAs had previously been quantified in these samples (Johnston et al. (1996) Mol. Brain Res., in press) and subjects were apolipoprotein E (APOE) genotyped. There were no significant differences between PS-1 mRNA levels per pg total RNA in mid-temporal or superior frontal cortices of the Alzheimer's disease subjects, compared to controls. PS-1 mRNA levels corresponded to 10% of total APP and 30% of APLP2 mRNA levels, and were not significantly affected by age, post-mortem delay, tissue pH, or APOE genotype. PS-1 mRNA showed significant positive correlations with APP and APLP2 mRNA levels in mid-temporal cortex and with APP mRNA in superior frontal cortex. This may reflect a co-regulation of the expression of these genes, or the fact that they are expressed in similar neuronal populations.
位于14号染色体上的早老素-1（PS-1）基因发生的突变与早发性家族性阿尔茨海默病共分离。我们使用溶液杂交-核糖核酸酶保护分析法，对14例阿尔茨海默病患者、9例非痴呆对照者以及5例患有其他神经系统疾病的患者死后的颞中回和额上回皮质中的PS-1 mRNA进行了定量分析。此前已对这些样本中的APP和APLP2 mRNA进行了定量分析（Johnston等人，（1996年）《分子脑研究》，即将发表），并对受试者进行了载脂蛋白E（APOE）基因分型。与对照组相比，阿尔茨海默病患者颞中回或额上回皮质中每微克总RNA的PS-1 mRNA水平没有显著差异。PS-1 mRNA水平相当于总APP的10%和APLP2 mRNA水平的30%，且不受年龄、死后延迟、组织pH值或APOE基因型的显著影响。在颞中回皮质中，PS-1 mRNA与APP和APLP2 mRNA水平呈显著正相关，在额上回皮质中与APP mRNA呈显著正相关。这可能反映了这些基因表达的共同调控，或者它们在相似神经元群体中表达的事实。
