Department of Dermatology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai 200040, China.
Cells. 2022 Mar 25;11(7):1116. doi: 10.3390/cells11071116.
Vitiligo is a common depigmented disease with unclear pathogenesis. Autophagy is crucial for maintaining cellular homeostasis and has been linked to a variety of autoimmune disorders; however, there have been no reports exploring the involvement of autophagy-related genes (ARGs) in vitiligo using bioinformatics methodologies. In this study, RNA-sequencing technology was used to identify the differentially expressed genes (DEGs) and the Human Autophagy Database (HADb) was overlapped to identify differentially expressed autophagy-related genes (DEARGs) in stable non-segmental vitiligo (NSV). Bioinformatics analyses were conducted with R packages and Ingenuity Pathways Analysis (IPA). DEARGs were further confirmed with qRT-PCR. Critical autophagy markers were detected with Western blotting analysis. We identified a total of 39 DEARGs in vitiligo lesions. DEARGs-enriched canonical pathways, diseases and bio functions, upstream regulators, and networks were discovered. qRT-PCR confirmed the significant increases in FOS and RGS19 in vitiligo lesions. Lower microtubule-associated protein 1 light chain (LC3) II/LC3I ratio and higher sequestosome 1 (SQSTM1, p62) expression were found in vitiligo lesions. In conclusion, this study provided a new insight that autophagy dysregulation appeared in stable vitiligo lesions and might be involved in the etiology of vitiligo by taking part in multiple pathways and bio functions.
白癜风是一种常见的色素脱失性疾病，其发病机制尚不清楚。自噬对于维持细胞内稳态至关重要，并且与多种自身免疫性疾病有关；然而，目前尚无研究使用生物信息学方法探讨自噬相关基因（ARGs）在白癜风中的作用。本研究采用 RNA 测序技术鉴定稳定型非节段性白癜风（NSV）中的差异表达基因（DEGs），并与人类自噬数据库（HADb）重叠以鉴定差异表达的自噬相关基因（DEARGs）。使用 R 包和 IPA 进行生物信息学分析。进一步通过 qRT-PCR 验证 DEARGs。采用 Western blot 分析检测关键自噬标志物。我们在白癜风病变中总共鉴定出 39 个 DEARGs。发现 DEARGs 富集的经典途径、疾病和生物功能、上游调控因子和网络。qRT-PCR 证实了白癜风病变中 FOS 和 RGS19 的显著增加。在白癜风病变中发现微管相关蛋白 1 轻链（LC3）II/LC3I 比值降低，自噬体相关蛋白 1（SQSTM1，p62）表达升高。综上所述，本研究提供了一个新的见解，即自噬失调似乎出现在稳定的白癜风病变中，并可能通过参与多个途径和生物功能参与白癜风的发病机制。
