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Fon Tacer, K.

Publications and source records attributed to Fon Tacer, K..

7 recordsLinked to original sources

Testis-Specific MAGEA3/6 Regulate Glycolysis to Promote Metabolic Flexibility and Reveal Therapeutic Vulnerabilities in Pancreatic Cancer Cells

Pancreatic ductal adenocarcinoma (PDAC) is an aggressive tumor characterized by metabolic plasticity that enables cancer cells to survive nutrient deprivation and therapeutic stress. Melanoma-associated antigens A3 and A6 (MAGEA3/6), members of the cancer-testis antigen family with a previously identified protective role in spermatogenesis during nutritional stress, have been implicated in cancer progression and metabolic regulation. However, their contribution to metabolic adaptation in pancreatic cancer remains poorly understood. Here, we investigated the molecular mechanisms underlying MAGEA3/6-mediated resistance to glycolytic inhibition using complementary gain- and loss-of-function models, pharmacological inhibition of metabolic pathways, cellular metabolic assays, and integrated transcriptomic, proteomic, metabolomic, and lipidomic analyses. MAGEA3/6 expression enhanced resistance to 2-deoxy-D-glucose (2-DG), with MAGEA6-expressing MIA PaCa-2 cells exhibiting a greater than 2.5-fold increase in the half-maximal inhibitory concentration (IC50). Conversely, MAGEA3/6 depletion reduced clonogenic growth and migration and increased sensitivity to 2-DG. Resistance persisted despite pharmacological inhibition of mTORC1, the pentose phosphate pathway, or glutaminase, suggesting metabolic adaptations beyond these pathways. Unexpectedly, MAGEA6 expression was associated with increased rather than decreased AMPK1 protein abundance, contrasting with previously reported MAGEA3/6-mediated AMPK degradation and suggesting context-dependent regulation of this master regulator of cellular metabolism. MAGEA6 also reduced hexokinase HK1 and HK2 abundance while increasing several downstream glycolytic enzymes, revealing discordant regulation of glycolysis. Seahorse analyses and integrated multi-omics profiling identified extensive remodeling of mitochondrial metabolism, glutamine-aspartate metabolism, phospholipid composition, lipid storage, and redox homeostasis. Interestingly, despite enhanced resistance to glycolytic inhibition, MAGEA6-expressing cells exhibited increased sensitivity to hydrogen peroxide-induced oxidative stress, revealing a potential metabolic vulnerability. Given that MAGEA3/6 are physiologically expressed primarily in the male germline during early spermatogenesis, a process highly sensitive to metabolic and oxidative stress, these findings also raise important questions about their physiological roles in protecting developing germ cells and maintaining metabolic and redox homeostasis. Together, our findings recognize MAGEA3/6 as regulators of metabolic plasticity in PDAC and highlight how understanding their molecular functions in both spermatogenesis and cancer may uncover previously unrecognized metabolic vulnerabilities and potential therapeutic opportunities.

cancer biology↗

Loss of MAGEL2 Disrupts Pituitary Translation in a Mouse Model of PWS and Schaaf-Yang Syndrome

Prader-Willi syndrome (PWS) and Schaaf-Yang syndrome (SYS) are neurodevelopmental disorders associated with hypothalamic-pituitary dysregulation. In the pituitary gland, translational control enables rapid peptide hormone production and secretion in response to hypothalamic signals without requiring new mRNA synthesis, yet the mechanisms regulating pituitary translation remain poorly understood. Furthermore, although the PWS-associated gene MAGEL2 has been implicated in neuroendocrine regulation and vesicular trafficking in the hypothalamus, its role in the pituitary gland remains unknown. Initial analysis of previously published pituitary proteomic data revealed enrichment of translation-associated pathways among downregulated proteins in Magel2 KO mice, suggesting translational impairment. Here, we investigated the impact of Magel2 loss on pituitary translatome using polysome profiling and RNA sequencing. We first optimized a polysome profiling workflow for mouse pituitary tissue and established that pooling two to three pituitaries yielded sufficient RNA quality and quantity for downstream analyses. Polysome profiling of WT and Magel2 KO pituitaries revealed no major alterations in global translational activity, as translated and nontranslated fractions were largely unchanged between genotypes. However, transmission electron microscopy revealed a shift toward smaller secretory granule size, indicating altered granule maturation dynamics. To further characterize the pituitary translatome, RNA sequencing was performed on input, monosome, light polysome, and heavy polysome fractions. Clustering analyses identified six distinct translational trajectories across fractions, revealing fraction-specific enrichment of biological pathways. RNAs enriched in heavy polysomes were associated with metabolic and oxidative phosphorylation pathways, whereas monosome-enriched clusters were linked to RNA processing and translation-related functions, suggesting specialized translational regulation within the pituitary. Differential expression analysis demonstrated that translatomic alterations were more pronounced than transcriptomic changes in Magel2 KO pituitaries, with the strongest enrichment observed in heavy polysome fractions. Functional enrichment analyses identified pathways associated with endocrine and metabolic regulation, circadian rhythm, cytoskeleton organization, vesicular trafficking, and RNA regulation, suggesting that translation contributes to pituitary physiological function and patient symptoms. For example, prolactin displayed altered polysome association without changes at the transcript level, consistent with the increased serum prolactin levels observed in Magel2 KO mice and in patients with PWS. Interestingly, the PWS-associated gene Necdin (Ndn) was consistently downregulated across all fractions, which contrasts with previously described compensatory upregulation in the hypothalamus. Together, our findings suggest the involvement of MAGEL2 in pituitary in transcriptional and translational processes and the organization of the secretory pathway and provide the first comprehensive characterization of the mouse pituitary translatome. This work provides new insights into the mechanisms underlying neuroendocrine dysfunction in PWS and SYS and establishes a resource for future studies of translational regulation in neuroendocrine disease.

molecular biology↗

Mechanisms of USP7/MAGEL2 Complex Assembly and Its Mutational Disruption in Neurodevelopmental Diseases

The WASH complex regulates endosomal trafficking and is linked to several neurodevelopmental diseases, including Prader-Willi syndrome, Schaaf-Yang syndrome, and Hao-Fountain syndrome. Its function is tightly controlled by ubiquitination, maintained by the multi-subunit MUST complex containing both a ubiquitin ligase (MAGEL2/TRIM27) and a deubiquitinase (USP7). However, the mechanism underlying the MUST complex assembly remains poorly understood. In this study, we investigate the assembly of USP7 and MAGEL2 components of the MUST complex using NMR spectroscopy, isothermal titration calorimetry, X-ray crystallography, and cellular assays. We show that the USP7/MAGEL2 interaction is bipartite and multivalent. Two distinct domains of USP7, TRAF and UBL1-2, recognize two unstructured but evolutionarily conserved regions of MAGEL2, one of which contains multiple TRAF-binding sites. Furthermore, we determine the high-resolution crystal structure of the TRAF/MAGEL2 complex and identify Hao-Fountain syndrome-linked mutations in USP7 that disrupt USP7/MAGEL2 complex formation in vitro and in cells. These findings provide mechanistic insight into the pathogenic basis of Hao-Fountain syndrome and related Schaaf-Yang and Prader-Willi syndromes.

biochemistry↗

GD3 synthase deficiency disrupts Na+/K+-ATPase and plasma membrane Ca2+-ATPase function in mouse brain

GD3 synthase (GD3S) is a key enzyme in the production of gangliosides, sialylated membrane glycosphingolipids with essential physiological roles in mammalian brains. To elucidate the molecular bases of neuropathological findings associated with GD3S deficiency, we performed a multilayered analysis focused on the functionality of ion transporters Na +/K+-ATPase (NKA) and plasma membrane Ca2+-ATPase (PMCA) in the cortex and cerebellum of GD3S-deficient mice (GD3S-/-). We examined global transcriptomes, NKA and PMCA gene and protein expression, the influence of membrane lipid composition on lipid raft integrity, and the activity of both ATPases, pairing them with an exploratory principal component analysis. Transcriptomic data reveal that sets of genes involved in ion transport and membrane dynamics are differentially expressed in the absence of GD3S, whereas qRT-PCR data confirm changes in gene expression of specific NKA and PMCA subunits or isoforms. Altered protein expression and significantly lower activity of both NKA and PMCA were found in the cerebral cortex of GD3S-/- mice. Detailed lipidomic analysis revealed segregation of cholesterol into lipid rafts, which may lead to disordered membrane lipid architecture in GD3S deficiency. Additionally, altered ganglioside composition was found to affect the activities of NKA and PMCA in the brain tissue of GD3S-/- mice. Our results confirm that an imbalance in membrane ganglioside composition leads to significant alterations in ion transporter function. Experimental restoration of ATPase activity in cortical homogenates by administering exogenous b-series gangliosides may aid in developing therapeutic strategies targeting deficits in GD3S and other enzymes of ganglioside biosynthesis.

neuroscience↗

Heterogenous mitochondrial ultrastructure and metabolism of human glioblastoma cells: differences between stem-like and differentiated cancer cells in response to chemotherapy

BackgroundGlioblastoma stem-like cells (GSCs) contribute to the resistance of glioblastoma (GBM) tumors to standard therapies. The cellular and molecular background of the resistance of GSCs to the chemotherapeutic agent temozolomide is not yet fully understood, in particular in the context of cellular metabolism and the role of mitochondria. The aim of this study was to perform a detailed ultrastructural characterization of the mitochondria of GSCs prior and post temozolomide exposure and to compare it to differentiated GBM cells. MethodsPatient-derived and established GSC and GBM differentiated cell lines were used for the study. The ultrastructure of the mitochondria of the examined cell lines was assessed by transmission electron microscopy. The microscopic analysis was complemented and compared by an analysis of cell metabolism using cell viability assay and extracellular flux analysis using Seahorse assay. ResultsWe found that the metabolic profile of GSCs is quiescent and aerobic. Their elongated mitochondria with highly organized cristae is indicating increased biogenesis and mitochondrial fusion and corresponds to a more OXPHOS-dependent metabolism. The metabolism of GSCs is dependent on OXPHOS and there are no changes in defective mitochondria fraction after the treatment with temozolomide. In contrast, differentiated GBM cells with fragmented mitochondria, which have less organized cristae, are more energetic and glycolytic. Temozolomide treatment induced significant ultrastructural mitochondrial damage in differentiated GBM cells and had less effect on mitochondria in GSCs, suggesting that mitochondria play an important role in the resistance of GSCs to temozolomide treatment. ConclusionsWe demonstrated differences in mitochondrial ultrastructure and cellular metabolism between GSCs and differentiated GBM cells in response to temozolomide. This study provides a basis for further studies addressing the chemotherapy resistance of GSCs and the effects of different treatment regimens on the mitochondrial structure and function of GSCs. Graphical Abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=136 SRC="FIGDIR/small/638633v1_ufig1.gif" ALT="Figure 1"> View larger version (35K): org.highwire.dtl.DTLVardef@14674e1org.highwire.dtl.DTLVardef@a38976org.highwire.dtl.DTLVardef@95d7a5org.highwire.dtl.DTLVardef@180b6dd_HPS_FORMAT_FIGEXP M_FIG C_FIG

cancer biology↗

Melanoma antigens in pediatric medulloblastoma contribute to tumor heterogeneity and species-specificity of group 3 tumors

BackgroundMedulloblastoma (MB) is the most malignant childhood brain cancer. Group 3 MB subtype accounts for about 25% of MB diagnoses and is associated with the most unfavorable outcomes. Herein, we report that more than half of group 3 MB tumors express melanoma antigens (MAGEs), which are potential prognostic and therapeutic markers. MAGEs are tumor antigens, expressed in several types of adult cancers and associated with poorer prognosis and therapy resistance; however, their expression in pediatric cancers is mostly unknown. The aim of this study was to determine whether MAGEs are activated in pediatric MB. MethodsTo determine MAGE frequency in pediatric MB, we obtained formalin-fixed paraffin-embedded tissue (FFPE) samples of 34 patients, collected between 2008 - 2015, from the Childrens Medical Center Dallas pathology archives and applied our validated reverse transcription quantitative PCR (RT-qPCR) assay to measure the relative expression of 23 MAGE cancer-testis antigen genes. To validate our data, we analyzed several published datasets from pediatric MB patients and patient-derived orthotopic xenografts, totaling 860 patients. We then examined how MAGE expression affects the growth and oncogenic potential of medulloblastoma cells by CRISPR-Cas9- and siRNA-mediated gene depletion. ResultsOur RT-qPCR analysis suggested that MAGEs were expressed in group 3/4 medulloblastoma. Further mining of bulk and single-cell RNA-sequencing datasets confirmed that 50-75% of group 3 tumors activate a subset of MAGE genes. Depletion of MAGEAs, B2, and Cs alter MB cell survival, viability, and clonogenic growth due to decreased proliferation and increased apoptosis. ConclusionsThese results indicate that targeting MAGEs in medulloblastoma may be a potential therapeutic option for group 3 medulloblastomas. Key PointsO_LISeveral Type I MAGE CTAs are expressed in >60% of group 3 MBs. C_LIO_LIType I MAGEs affect MB cell proliferation and apoptosis. C_LIO_LIMAGEs are potential biomarkers and therapeutic targets for group 3 MBs. C_LI Importance of the StudyThis study is the first comprehensive analysis of all Type I MAGE CTAs (MAGEA, -B, and -C subfamily members) in pediatric MBs. Our results show that more than 60% of group 3 MBs express MAGE genes, which are required for the viability and growth of cells in which they are expressed. Collectively, these data provide novel insights into the antigen landscape of pediatric MBs. The activation of MAGE genes in group 3 MBs presents potential stratifying and therapeutic options. O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=175 SRC="FIGDIR/small/594201v1_ufig1.gif" ALT="Figure 1"> View larger version (40K): org.highwire.dtl.DTLVardef@1ac274aorg.highwire.dtl.DTLVardef@1479944org.highwire.dtl.DTLVardef@19f5aaforg.highwire.dtl.DTLVardef@fad069_HPS_FORMAT_FIGEXP M_FIG C_FIG

cancer biology↗

Enhanced stress tolerance through reduction of G3BP and suppression of stress granules

Stress granules (SG) are membrane-less ribonucleoprotein condensates that form in response to various stress stimuli via phase separation. SG act as a protective mechanism to cope with acute stress, but persistent SG have cytotoxic effects that are associated with several age-related diseases. Here, we demonstrate that the testis-specific protein, MAGE-B2, increases cellular stress tolerance by suppressing SG formation through translational inhibition of the key SG nucleator G3BP. MAGE-B2 reduces G3BP protein levels below the critical concentration for phase separation and suppresses SG initiation. Importantly, knockout of the MAGE-B2 mouse ortholog confers hypersensitivity of the male germline to heat stress in vivo. Thus, MAGE-B2 provides cytoprotection to maintain mammalian spermatogenesis, a highly thermo-sensitive process that must be preserved throughout reproductive life. These results demonstrate a mechanism that allows for tissue-specific resistance against stress through fine-tuning phase separation and could aid in the development of male fertility therapies.

cell biology↗