Humbert Jordi, Beyer Katrin, Carrato Cristina, Mate José L, Ferrer Isidro, Ariza Aurelio
Departments of Pathology, Hospital Germans Trias i Pujol, Autonomous University of Barcelona, 08916 Badalona, Spain.
Neurobiol Dis. 2007 Jun;26(3):681-7. doi: 10.1016/j.nbd.2007.03.007. Epub 2007 Mar 27.
Alternative splicing gives rise to at least seven parkin and eight synphilin-1 isoforms. Since both parkin and synphilin-1 have been involved in Lewy body (LB) formation, we decided to explore whether their isoforms are differentially expressed in LB diseases. With this aim, we studied relative mRNA expression levels of parkin and synphilin-1 isoforms in the frontal cortices of patients with dementia with LBs, the LB variant of Alzheimer's disease and Parkinson's disease and compared the findings with those obtained from Alzheimer's disease patients and control individuals. Duplex real-time PCR reactions, with beta-actin as internal standard, were carried out in a LightCycler. mRNA expression levels of parkin and synphilin-1 isoforms were seen to be specifically altered in each of the LB diseases studied. These findings suggest that parkin and synphilin-1 isoform expression changes play a significant role in the pathogenesis of LB diseases.
可变剪接产生了至少七种帕金蛋白异构体和八种突触核蛋白-1异构体。由于帕金蛋白和突触核蛋白-1均与路易小体（LB）的形成有关，我们决定探究它们的异构体在LB疾病中是否存在差异表达。出于这一目的，我们研究了患有LB的痴呆症患者、阿尔茨海默病LB变异型患者以及帕金森病患者额叶皮质中帕金蛋白和突触核蛋白-1异构体的相对mRNA表达水平，并将研究结果与阿尔茨海默病患者及对照个体的结果进行比较。以β-肌动蛋白作为内参，在LightCycler中进行双链实时PCR反应。在所研究的每种LB疾病中，均观察到帕金蛋白和突触核蛋白-1异构体的mRNA表达水平发生了特异性改变。这些发现表明，帕金蛋白和突触核蛋白-1异构体的表达变化在LB疾病的发病机制中起着重要作用。
