Labadorf Adam, Choi Seung H, Myers Richard H
Bioinformatics Program, Boston University, Boston, MA, United States.
Department of Neurology, Boston University, Boston, MA, United States.
Front Mol Neurosci. 2018 Jan 11;10:430. doi: 10.3389/fnmol.2017.00430. eCollection 2017.
Huntington's and Parkinson's Diseases (HD and PD) are neurodegenerative disorders that share some pathological features but are disparate in others. For example, while both diseases are marked by aberrant protein aggregation in the brain, the specific proteins that aggregate and types of neurons affected differ. A better understanding of the molecular similarities and differences between these two diseases may lead to a more complete mechanistic picture of both the individual diseases and the neurodegenerative process in general. We sought to characterize the common transcriptional signature of HD and PD as well as genes uniquely implicated in each of these diseases using mRNA-Seq data from post mortem human brains in comparison to neuropathologically normal controls. The enriched biological pathways implicated by HD differentially expressed genes show remarkable consistency with those for PD differentially expressed genes and implicate the common biological processes of neuroinflammation, apoptosis, transcriptional dysregulation, and neuron-associated functions. Comparison of the differentially expressed (DE) genes highlights a set of consistently altered genes that span both diseases. In particular, processes involving nuclear factor kappa-light-chain-enhancer of activated B cells (NFkB) and transcription factor cAMP response element-binding protein (CREB) are the most prominent among the genes common to HD and PD. When the combined HD and PD data are compared to controls, relatively few additional biological processes emerge as significantly enriched, suggesting that most pathways are independently seen within each disorder. Despite showing comparable numbers of DE genes, DE genes unique to HD are enriched in far more coherent biological processes than the DE genes unique to PD, suggesting that PD may represent a more heterogeneous disorder. The complexity of the biological processes implicated by this analysis provides impetus for the development of better experimental models to validate the results.
亨廷顿舞蹈症和帕金森病(HD和PD)是神经退行性疾病,它们有一些共同的病理特征,但在其他方面也存在差异。例如,虽然这两种疾病都以大脑中异常蛋白质聚集为特征,但聚集的特定蛋白质以及受影响的神经元类型有所不同。更好地了解这两种疾病之间的分子异同,可能会使我们对这两种疾病以及一般神经退行性过程有更完整的机制认识。我们试图利用来自死后人类大脑的mRNA测序数据,与神经病理学正常的对照样本进行比较,来描述HD和PD的共同转录特征以及每种疾病中独特涉及的基因。HD差异表达基因所涉及的富集生物途径与PD差异表达基因的途径显示出显著的一致性,并涉及神经炎症、细胞凋亡、转录失调和神经元相关功能等共同生物学过程。对差异表达(DE)基因的比较突出了一组在两种疾病中都持续改变的基因。特别是,涉及活化B细胞核因子κ轻链增强子(NFkB)和转录因子cAMP反应元件结合蛋白(CREB)的过程在HD和PD共有的基因中最为突出。当将HD和PD的数据合并与对照样本进行比较时,相对较少的其他生物学过程出现显著富集,这表明大多数途径在每种疾病中是独立出现的。尽管HD和PD的DE基因数量相当,但HD特有的DE基因比PD特有的DE基因在更连贯的生物学过程中富集,这表明PD可能代表一种更具异质性的疾病。该分析所涉及的生物学过程的复杂性为开发更好的实验模型以验证结果提供了动力。