Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center of Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Laboratory Medicine Center, Department of Clinical Laboratory, Zhejiang Provincial People's Hospital (Affiliated People's Hospital), Hangzhou Medical College, Hangzhou, China.
Sci Rep. 2024 Nov 18;14(1):28491. doi: 10.1038/s41598-024-78729-0.
Gastric cancer (GC) is a common digestive system cancer, characterized by a significant mortality rate. Mitochondria is an indispensable organelle in eukaryotic cells. It was previously revealed that a series of nucleus-encoded mitochondrial genes (NMG) mutations and dysfunctions potentially contribute to the initiation and progression of GC. However, the correlation between NMG mutations and survival outcomes for GC patients is still unclear. In this study, NMG expression profile and clinical information in GC samples were collected from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases. Through consistent clustering and functional enrichment analysis, we have identified three NMG clusters and three gene clusters that are associated with patterns of immune cell infiltration. Prognostic genes were identified through Univariate Cox regression analysis. The principal component analysis was conducted to set up a scoring system. Subsequently, the Single‑cell RNA sequencing (scRNA-seq) data of GC patients and cancer cell drug sensitivity data were retrieved from the GEO database. Patients with high NMG scores exhibited increased microsatellite instability status and a heightened tumor mutation rate compared to those with low NMG scores. Survival analysis revealed that GC samples with high NMG scores could achieve a better prognosis. Additionally, These patients were observed to be more responsive to immunotherapy. Moreover, we delved into prognostic genes at the level of single cells, revealing that MRPL4 and MRPL37 exhibit high expression in epithelial cells, while TPM1 demonstrates high expression in tissue stem cells. Utilizing cancer cell drug sensitivity data from the Drug Sensitivity in Cancer (GDSC) database, we noted a heightened sensitivity to chemotherapy in the high NMG group. Furthermore, we discovered a significant enrichment of cuproptosis-related genes in clusters with high NMG scores. Consequently, employing the scoring system could facilitate the prediction of GC patients' sensitivity to cuproptosis-induced therapy. Our study confirmed the potency of this scoring system as a therapeutic response biomarker for gastric cancer, potentially informing clinical treatment strategies.
胃癌(GC)是一种常见的消化系统癌症,其死亡率较高。线粒体是真核细胞中不可缺少的细胞器。先前的研究表明,一系列核编码的线粒体基因(NMG)突变和功能障碍可能有助于 GC 的发生和发展。然而,NMG 突变与 GC 患者生存结果的相关性尚不清楚。本研究从癌症基因组图谱(TCGA)和基因表达综合(GEO)数据库中收集了 GC 样本中的 NMG 表达谱和临床信息。通过一致聚类和功能富集分析,我们确定了与免疫细胞浸润模式相关的三个 NMG 簇和三个基因簇。通过单变量 Cox 回归分析鉴定预后基因。通过主成分分析建立评分系统。随后,从 GEO 数据库中检索了 GC 患者的单细胞 RNA 测序(scRNA-seq)数据和癌症细胞药物敏感性数据。与低 NMG 评分相比,NMG 评分较高的患者表现出更高的微卫星不稳定性状态和肿瘤突变率。生存分析表明,NMG 评分较高的 GC 样本可以获得更好的预后。此外,这些患者对免疫治疗更敏感。此外,我们在单细胞水平上研究了预后基因,发现 MRPL4 和 MRPL37 在上皮细胞中高表达,而 TPM1 在组织干细胞中高表达。利用癌症细胞药物敏感性来自癌症药物敏感性(GDSC)数据库,我们注意到高 NMG 组对化疗的敏感性更高。此外,我们发现高 NMG 评分簇中存在大量铜死亡相关基因的富集。因此,该评分系统可用于预测 GC 患者对铜死亡诱导治疗的敏感性。我们的研究证实了该评分系统作为胃癌治疗反应生物标志物的潜力,可能为临床治疗策略提供信息。