Human Gene Set: LIN_ENDOMETRIAL_CANCER_MITOCHONDRIAL_SIGNATURE


Standard name LIN_ENDOMETRIAL_CANCER_MITOCHONDRIAL_SIGNATURE
Systematic name M50116
Brief description 267 prognostically relevant Mitochondria-related genes associated with endometrial cancer
Full description or abstract Mitochondria are essential organelles involved in cell metabolism and are closely linked to various metabolic disorders. In this study, the authors aimed to develop a prognostic model for endometrial cancer (EC) patients based on mitochondria-related genes (MRGs), and to investigate the role of MACC1 in EC. As shown in the graphic summary, the authors retrieved gene expression and clinical data from open-access databases. To construct a predictive signature, the authors applied the Lasso Cox regression algorithm to MRGs. The predictive performance, immune features, and anti-tumor response of the mitochondrial signature was evaluated through multiple algorithms. Additionally, expression levels of key genes were validated using quantitative Real-Time PCR and Western Blot. A total of 2030 MRGs were retrieved, and 267 were found to be prognostically relevant. Eight MRGs MACC1, CMPK2, NDUFAF6, DUSP18, TOMM40L, MT-TP, SAMM50, and MAIP1 were identified to construct a prognostic signature for EC. The MRG signature demonstrated significant associations with drug sensitivity, immune therapy, and immune cell infiltration. Based on comprehensive bioinformatic analysis, MACC1 was identified as the most promising MRG candidate in EC. Systematic experimental validation, including both in vitro and in vivo approaches, demonstrated that MACC1 down-regulation significantly suppressed EC progression, highlighting its potential as a therapeutic target.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 40354443   Authors: Lin X,Zheng J,Li Y,Liu L,Liu Q,Lin J,Sun Y
Exact source S3 Table. The MRGs used for risk score.
Related gene sets (show 83 gene sets from any of these authors)
External links https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0323002
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Source species Homo sapiens
Contributed by Anthony Castanza (MSigDB Team)
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identifier namespace		 HUMAN_GENE_SYMBOL
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GTEx compendium
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NCI-60 cell lines (National Cancer Institute)
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