Liu Huanhuan, Bai Qiuyu, Wang Xueying, Jin Yunlei, Ju Xingda, Lu Chang
School of Psychology, Northeast Normal University, Changchun, China.
Yancheng College of Mechatronic Technology, Yancheng, China.
IBRO Neurosci Rep. 2024 Sep 29;17:311-319. doi: 10.1016/j.ibneur.2024.09.004. eCollection 2024 Dec.
Autism spectrum disorder (ASD) and Huntington's disease (HD) are complex neurological conditions with unclear causes and limited treatments, affecting individuals, families, and society. Despite ASD and HD representing two opposing stages of neuronal development and degeneration, they share similar clinical-pathological features in motor function. In this study, we leveraged transcriptomic data from the prefrontal cortex available in public databases to identify shared transcriptional characteristics of ASD and HD. Differential expression analysis revealed that the majority of differentially expressed genes (DEGs) were up-regulated in ASD carriers, whereas most DEGs were down-regulated in HD carriers. Among the DEGs shared between both diseases, three out of seven protein-coding genes were related to the immune system. Furthermore, we identified two enriched pathways shared between ASD and HD DEGs. The gene interaction network analysis unveiled four hub genes shared by both diseases, all of which are associated with immune functions. The findings suggest a shared gene expression pattern in the prefrontal cortex of people with ASD and HD, closely linked to the immune system. These findings will contribute to exploring the biological mechanisms underlying the shared phenotypes of these two diseases from an immunological perspective.
自闭症谱系障碍(ASD)和亨廷顿舞蹈症(HD)是复杂的神经疾病,病因不明且治疗手段有限,对个人、家庭和社会都有影响。尽管ASD和HD代表了神经元发育和退化的两个相反阶段,但它们在运动功能方面具有相似的临床病理特征。在本研究中,我们利用公共数据库中前额叶皮质的转录组数据来识别ASD和HD的共同转录特征。差异表达分析显示,大多数差异表达基因(DEG)在ASD携带者中上调,而在HD携带者中大多数DEG下调。在两种疾病共有的DEG中,七个蛋白质编码基因中有三个与免疫系统相关。此外,我们还确定了ASD和HD的DEG共有的两条富集途径。基因相互作用网络分析揭示了两种疾病共有的四个枢纽基因,所有这些基因都与免疫功能相关。研究结果表明,ASD和HD患者前额叶皮质存在共同的基因表达模式,与免疫系统密切相关。这些发现将有助于从免疫学角度探索这两种疾病共同表型背后的生物学机制。