尼曼匹克症C型是基因突變所導致的罕見疾病，它會使次級內體及溶酶體中的膽固醇及鞘糖脂過度累積，導致患者引發神經或精神上的症狀。尼曼匹克症C型與其他疾病相比，尼曼匹克症C型的研究相對少很多，而運用轉錄組來瞭解這種疾病的研究更是屈指可數。在這份研究中，我們從患者的周邊血液中取得轉錄組需要的樣本，透過次世代定序取得RNA的表現量，這些基因表現量透過顯著檢定與差異倍數篩選出顯著的基因，我們使用這些基因進行後續的生物途徑分析。我們也將這些尼曼匹克症C型的患者進行不同表徵的分組，並在分析後進行討論。透過生物途徑的分析，我們從尼曼匹克症C型的患者的差異表達基因中發現了與神經退化疾病相關的生物途徑，也找出與尼曼匹克症C型相關的PIK3CG及PIK3CD兩個基因和磷酸肌醇的代謝路徑。;Niemann-Pick disease type C is a rare disease caused by gene mutations that cause excessive accumulation of cholesterol and glycosphingolipids in late endosomes and lysosomes, resulting in neurological or psychiatric symptoms. The research of Niemann-Pick disease type C is relatively understudied compared to other diseases, and it is rare that use transcriptomes to understand this disease. In this study, we obtained the samples needed for the transcriptome from the peripheral blood of patients, and we got RNA expressions through next-generation sequencing. The expressions of these genes were filtered by significance testing and foldchange. After the analysis, we also grouped these Niemann-Pick disease type C patients with different characteristics and discussed them. Through the analysis of biological pathways, we found some pathways related to neurodegenerative diseases from the differentially expressed genes of patients with Niemann-Pick disease type C. We also identified that PIK3CG, PIK3CD, and the inositol phosphate metabolism pathway are associated with Niemann-Pick disease type C.
