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Horak, I.

Publications and source records attributed to Horak, I..

2 recordsLinked to original sources

Novel cumate-inducible models of MYC-driven neuroblastoma enable unconfounded mitochondrial synthetic lethality screens

Oncogenic MYC transcription factors profoundly alter cellular programs, imposing dependencies that can be therapeutically exploited in MYC-driven cancers such as high-risk neuroblastoma. However, dissecting such synthetic lethal vulnerabilities using controlled, tunable gene expression within a uniform genetic background remains challenging. Widely used tetracycline-regulated systems rely on inducers known to perturb mitochondrial function, introducing significant off-target effects that may confound interpretation. To overcome this limitation, we established novel cumate (p-isopropylbenzoate)-inducible neuroblastoma models that enable physiologically unbiased regulation of MYC(N) expression. Functional validation demonstrated that cumate itself does not induce off-target effects on neuroblastoma cell viability, mitochondrial membrane potential, morphology, proteostasis, or stress signaling, even at the highest recommended dose. The developed SHEP-CuO-MYC and -MYCN models show efficient, titratable, and reversible upregulation of c-MYC and N-MYC, respectively, recapitulating the expression levels observed in MYC(N)-amplified neuroblastoma. As a proof-of-concept, we applied these models to mechanistically validate the recently proposed mitoribosomal synthetic lethality, providing fully unbiased evidence that elevated c-MYC/N-MYC levels sensitize neuroblastoma cells to inhibitors of mitochondrial gene expression. Although impairing mitochondrial translation activated mitochondrial integrated stress response in both MYC-on and MYC-off states, it led to dramatic MYC downregulation coupled with enhanced caspase-dependent cell death in MYC-on cells. These findings reveal that MYC(N) overexpression confers a selective, proliferation-independent mitochondrial vulnerability that can be therapeutically targeted by repurposing well-tolerated mitochondrial ribosome-targeting antibiotics. Collectively, our models provide a robust platform for studying the MYC-mitochondria interplay and can be directly adapted for drug repurposing screens targeting mitochondrial dependencies in neuroblastoma and, potentially, other MYC-driven tumors. HIGHLIGHTSO_LICumate shows no inducer-associated mitochondrial or cytotoxic off-target effects C_LIO_LICumate-inducible MYC models enable mechanistic studies of mitochondrial synthetic lethality C_LIO_LIMYC overexpression drives neuroblastoma sensitivity to mitochondrial translation inhibition C_LIO_LICommon ribosomal antibiotics trigger caspase-dependent cell death in MYC-driven tumor cells C_LIO_LIContext-specific MYC downregulation links mitochondrial stress to MYC synthetic lethality C_LI

cancer biology↗

Analysis of publicly available transcriptomic data to identify key genes and pathways associated with osteosarcoma metastasis

Osteosarcoma is the most common bone tumor occurring in children and adolescents. The prognosis of osteosarcoma patients with metastasis is rather poor, availability of prognostic molecular markers would thereby help to distinguish patients with a worse prognosis and to choose appropriate treatment. This study aimed to analyze data from publicly available datasets to identify genes and pathways associated with osteosarcoma onset and metastasis. A total of 8 datasets were analyzed (TARGET-OS, GSE220538, GSE21257, GSE9508, GSE87624, GSE14359, GSE19276, and GSE36001), and common deregulated genes and abundant pathways were searched. Three downregulated genes, TMBIM4, PKIB and IGKC, were common between metastatic and non-metastatic osteosarcoma tumors. Several abundant GO terms and pathways were identified, including Apoptotic Process (GO:0006915), Regulation Of Phosphatidylinositol 3-Kinase Signaling (GO:0014066), Regulation Of Cell Adhesion Molecule Production (GO:0060353), Positive Regulation Of MAP Kinase Activity (GO:0043406), and KEGG pathway Adherens junction. Analysis of metastasis versus primary tumor revealed 231 common deregulated genes, identified hub genes involved in the organization of cell-cell junctions and surfactant metabolism. Significant enrichment was found in tight junctions, actin cytoskeleton, focal adhesion, muscle contraction proteins, NF-{kappa}B, PIK3/Akt/mTOR, AMPK, TNF, and MAPK signaling. 335 common deregulated genes were found between tumor and normal bone, network analysis revealed two clusters involved in cell cycle progression and G2/M transition, and immune response regulation. Abundance was found in p53, TNF, MAPK, and JAK-STAT pathways. Taken together, this study consolidated transcriptomic data from 8 publicly available datasets to identify common deregulated genes and pathways in osteosarcoma development and metastasis.

cancer biology↗