Acute myeloid leukemia (AML) is a malignant disease originating from myeloid hematopoietic stem or progenitor cells. It is important to identify molecules associated with the prognosis of AML and conduct an individual risk assessment for different patients. In the present study, the RNA expression profile of 132 patients with AML and 337 healthy individuals were downloaded from the University of California Santa Cruz Xena and the Genotype-Tissue Expression project databases. Differentially expressed mRNA (DEmRNA) transcripts between normal blood and AML blood were identified. Among these, prognosis-associated signature mRNA molecules were screened using univariate Cox and least absolute shrinkage and selection operator regression. A total of four genes, namely, family with sequence similarity 124 member B (FAM124B), 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL), myeloperoxidase (MPO) and purinergic receptor P2Y1 (P2RY1), were identified using multivariate Cox regression analysis and were used to construct a prognostic scoring system. Moreover, the expression levels of HPDL and MPO were higher in the samples with high immunity scores and estimate scores (sum of stromal score and immune score), compared with those with low scores. Reverse transcription-quantitative PCR and western blot analysis were used to confirm the upregulation of the four candidate genes in AML cell lines as well as in clinical AML samples. In summary, the present study identified a novel mRNA-based prognostic risk scoring system for patients with AML. The four genes used in this scoring system may also play an important role in AML.

acute myeloid leukemia (aMl) is a type of hematological malignancy caused by uncontrolled clonal proliferation of hematopoietic stem cells. The special energy metabolism mode of aMl relying on oxidative phosphorylation is different from the traditional 'Warburg effect'. However, its mechanism is not clear. in the present study, it was demonstrated that the mrna expression levels of nadH dehydrogenase subunit 1, 4 and 5 (nd1, nd4 and nd5) were upregulated in aMl samples from The cancer Genome atlas database using the limma package in the r programming language. reverse transcription-quantitative Pcr and eliSa were used to verify the upregulation of nd1, nd4 and nd5 in clinical samples. Pan-cancer analysis revealed that the expression of nd1 was upregulated only in aMl, nd2 was upregulated only in aMl and thymoma, and nd4 was upregulated only in aMl and kidney chromophobe. in the present study, it was demonstrated that silencing of nd1/4/5 could inhibit the proliferation of aMl cells in transplanted tumor of nude mice. additionally, it was found that oxidative phosphorylation and energy metabolism of aMl cells were decreased after silencing of nd1/4/5. in conclusion, the present study suggested that nd1/4/5 may be involved in the regulation of oxidative phosphorylation metabolism in aMl as a potential cancer-promoting factor.

Hypertrophic cardiomyopathy (HCM) is a primary cardiomyopathy characterized by hypertrophic cardiomyocytes. It is one of the leading causes of sudden death in adolescents. However, the molecular mechanism of HCM is not clear. In our study, ribonucleic acid (RNA) sequence data of myocardial tissue in HCM patients was extracted from the Gene Expression Omnibus (GEO) database and analyzed by weighted gene co-expression network analysis (WGCNA). A total of 31 co-expression modules were identified. The co-expression black module significantly correlated with maximum left ventricular wall thickness (Maxi LVWT). We screened the differentially expressed mRNAs between normal tissues and HCM tissues using the dplyr and tidyr packet in R3.6.2. The genes in the black module and differentially expressed genes were further intersected. We found that the expression of carboxylesterase 1 (CES1) and cathepsin C (CTSC) was down regulated in HCM tissues, and negatively correlated with Maxi LVWT. We further verified the above conclusion in clinical samples from HCM patients. We found the expression of CES1 and CTSC was down regulated in HCM tissues, and negatively correlated with Maxi LVWT. The above conclusion was further verified in clinical samples from HCM patients. In summary, the study suggests that CES1 and CTSC negatively regulate development of HCM and have potential as a therapeutic and diagnostic target for HCM.