Li Yujian, Kan Xuan
Department of Pediatrics, General Hospital of Tianjin Medical University, Tianjin, China.
Biochem Genet. 2024 Apr;62(2):1136-1159. doi: 10.1007/s10528-023-10473-y. Epub 2023 Aug 10.
Acute myeloid leukemia (AML) is a life-threatening hematologic malignant disease with high morbidity and mortality in both adults and children. Cuproptosis, a novel mode of cell death, plays an important role in tumor development, but the functional mechanisms of cuproptosis-related genes (CRGs) in AML are unclear. The differential expression of CRGs between tumors such as AML and normal tissues in UCSC XENA, TCGA and GTEx was verified using R (version: 3.6.3). Lasso regression, Cox regression and Nomogram were used to screen for prognostic biomarkers of AML and to construct corresponding prognostic models. Kaplan-Meier analysis, ROC analysis, clinical correlation analysis, immune infiltration analysis and enrichment analysis were used to further investigate the correlation and functional mechanisms of CRGs with AML. The ceRNA regulatory network was used to identify the mRNA-miRNA-lncRNA regulatory axis. Cuproptosis-related genes LIPT1, MTF1, GLS and CDKN2A were highly expressed in AML, while FDX1, LIAS, DLD, DLAT, PDHA1, SLC31A1 and ATP7B were lowly expressed in AML. Lasso regression, Cox regression, Nomogram and calibration curve finally identified MTF1 and LIPT1 as two novel prognostic biomarkers of AML and constructed the corresponding prognostic models. In addition, all 12 CRGs had predictive power for AML, with MTF1, LIAS, SLC31A1 and CDKN2A showing more reliable results. Further analysis showed that ATP7B was closely associated with mutation types such as FLT3, NPM1, RAS and IDH1 R140 in AML, while the expression of MTF1, LIAS and ATP7B in AML was closely associated with immune infiltration. Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Set Enrichment Analysis (GSEA) revealed that biological functions such as metal ion transmembrane transporter activity, haptoglobin binding and oxygen carrier activity, pathways such as interferon alpha response, coagulation, UV response DN, apoptosis, hypoxia and heme metabolism all play a role in the development of AML. The ceRNA regulatory network revealed that 6 lncRNAs such as MALAT1, interfere with MTF1 expression through 6 miRNAs such as hsa-miR-32-5p, which in turn affect the development and progression of AML. In addition, APTO-253 has the potential to become an AML-targeted drug. The cuproptosis-related genes MTF1 and LIPT1 can be used as prognostic biomarkers in AML. A total of six lncRNAs, including MALAT1, are involved in the expression and regulation of MTF1 in AML through six miRNAs such as hsa-miR-32-5p.
急性髓系白血病(AML)是一种危及生命的血液系统恶性疾病,在成人和儿童中均具有较高的发病率和死亡率。铜死亡作为一种新型细胞死亡方式,在肿瘤发生发展中发挥重要作用,但铜死亡相关基因(CRGs)在AML中的功能机制尚不清楚。利用R(版本:3.6.3)验证了UCSC XENA、TCGA和GTEx中AML等肿瘤与正常组织之间CRGs的差异表达。采用套索回归、Cox回归和列线图筛选AML的预后生物标志物并构建相应的预后模型。通过Kaplan-Meier分析、ROC分析、临床相关性分析、免疫浸润分析和富集分析进一步研究CRGs与AML的相关性及功能机制。利用ceRNA调控网络鉴定mRNA-miRNA-lncRNA调控轴。铜死亡相关基因LIPT1、MTF1、GLS和CDKN2A在AML中高表达,而FDX1、LIAS、DLD、DLAT、PDHA1、SLC31A1和ATP7B在AML中低表达。套索回归、Cox回归、列线图和校准曲线最终确定MTF1和LIPT1为AML的两个新型预后生物标志物并构建了相应的预后模型。此外,所有12个CRGs对AML均具有预测能力,其中MTF1、LIAS、SLC31A1和CDKN2A显示出更可靠的结果。进一步分析表明,ATP7B与AML中的FLT3、NPM1、RAS和IDH1 R140等突变类型密切相关,而MTF1、LIAS和ATP7B在AML中的表达与免疫浸润密切相关。基因本体论(GO)、京都基因与基因组百科全书(KEGG)和基因集富集分析(GSEA)显示,金属离子跨膜转运蛋白活性、触珠蛋白结合和氧载体活性等生物学功能,以及干扰素α反应、凝血、紫外线反应DN、凋亡、缺氧和血红素代谢等通路均在AML的发生发展中起作用。ceRNA调控网络显示,MALAT1等6个lncRNA通过hsa-miR-32-5p等6个miRNA干扰MTF1表达,进而影响AML的发生发展。此外,APTO-253有潜力成为一种靶向AML的药物。铜死亡相关基因MTF1和LIPT1可作为AML的预后生物标志物。包括MALAT1在内的总共6个lncRNA通过hsa-miR-32-5p等6个miRNA参与AML中MTF1的表达调控。