Stoccoro Andrea, Siciliano Gabriele, Migliore Lucia, Coppedè Fabio
Department of Translational Research and New Technologies in Medicine and Surgery, Section of Medical Genetics, University of Pisa, Pisa, Italy.
Department of Medical Biotechnologies, Doctoral School in Genetics, Oncology, and Clinical Medicine, University of Siena, Siena, Italy.
J Alzheimers Dis. 2017;59(2):559-564. doi: 10.3233/JAD-170139.
Mitochondrial impairment is a feature of neurodegeneration and many investigators have suggested that epigenetic modifications of the mitochondrial DNA (mtDNA) might be involved in late-onset Alzheimer's disease (LOAD), but evidence in humans is limited. We assessed the methylation levels of the mtDNA D-loop region in blood DNA from 133 LOAD patients and 130 controls, observing a significant 25% reduction of DNA methylation levels in the first group (2.3 versus 3.1%). Overall, the present data indicate that there is a decreased methylation of the D-loop region in LOAD peripheral blood DNA, suggesting that mtDNA epimutations deserve further investigations in AD pathogenesis.
线粒体损伤是神经退行性变的一个特征，许多研究人员认为线粒体DNA（mtDNA）的表观遗传修饰可能与晚发性阿尔茨海默病（LOAD）有关，但人类方面的证据有限。我们评估了133例LOAD患者和130例对照者血液DNA中线粒体DNA D环区域的甲基化水平，观察到第一组DNA甲基化水平显著降低了25%（2.3%对3.1%）。总体而言，目前的数据表明LOAD外周血DNA中D环区域的甲基化减少，提示mtDNA表观突变在AD发病机制中值得进一步研究。
