{"entity": "researcher", "timestamp": "2026-09-25T18:01:33.855Z", "family": "Gimm", "given": "Oliver", "initials": "O", "orcid": "0000-0002-0054-664X", "affiliations": ["Department of Surgery and Department of Biomedical and Clinical Sciences (BKV), Link\u00f6ping University, 581 83 Link\u00f6ping, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/d5c2723383c8418798a829fe6b0158de.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/d5c2723383c8418798a829fe6b0158de"}}, "publications": [{"entity": "publication", "iuid": "05f26e83d03a47d2b1472a063cb70332", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/05f26e83d03a47d2b1472a063cb70332.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/05f26e83d03a47d2b1472a063cb70332"}}, "title": "Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.", "authors": [{"family": "Tabebi", "given": "Mouna", "initials": "M", "orcid": "0000-0002-2873-161X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/afee1b7a1ad84ff38678aa052c5dfa06.json"}}, {"family": "\u0141ysiak", "given": "Ma\u0142gorzata", "initials": "M", "orcid": "0000-0002-0244-759X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/642bd1b627974f3db6db52edda73a179.json"}}, {"family": "Dutta", "given": "Ravi Kumar", "initials": "RK"}, {"family": "Lomazzi", "given": "Sandra", "initials": "S"}, {"family": "Turkina", "given": "Maria V", "initials": "MV"}, {"family": "Brunaud", "given": "Laurent", "initials": "L", "orcid": "0000-0001-5182-6660", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/513cec45049949a9b7156ac986aa2f16.json"}}, {"family": "Gimm", "given": "Oliver", "initials": "O", "orcid": "0000-0002-0054-664X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d5c2723383c8418798a829fe6b0158de.json"}}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}], "type": "journal article", "published": "2022-01-06", "journal": {"title": "Cancers (Basel)", "issn": "2072-6694", "volume": "14", "issue": "2", "issn-l": "2072-6694"}, "abstract": "Somatic mutations, copy-number variations, and genome instability of mitochondrial DNA (mtDNA) have been reported in different types of cancers and are suggested to play important roles in cancer development and metastasis. However, there is scarce information about pheochromocytomas and paragangliomas (PCCs/PGLs) formation.\n\nTo determine the potential roles of mtDNA alterations in sporadic PCCs/PGLs, we analyzed a panel of 26 nuclear susceptibility genes and the entire mtDNA sequence of seventy-seven human tumors, using next-generation sequencing, and compared the results with normal adrenal medulla tissues. We also performed an analysis of copy-number alterations, large mtDNA deletion, and gene and protein expression.\n\nOur results revealed that 53.2% of the tumors harbor a mutation in at least one of the targeted susceptibility genes, and 16.9% harbor complementary mitochondrial mutations. More than 50% of the mitochondrial mutations were novel and predicted pathogenic, affecting mitochondrial oxidative phosphorylation. Large deletions were found in 26% of tumors, and depletion of mtDNA occurred in more than 87% of PCCs/PGLs. The reduction of the mitochondrial number was accompanied by a reduced expression of the regulators that promote mitochondrial biogenesis (PCG1\u03b1, NRF1, and TFAM). Further, P62 and LC3a gene expression suggested increased mitophagy, which is linked to mitochondrial dysfunction.\n\nThe pathogenic role of these finding remains to be shown, but we suggest a complementarity and a potential contributing role in PCCs/PGLs tumorigenesis.", "doi": "10.3390/cancers14020269", "pmid": "35053433", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8773562"}, {"db": "pii", "key": "cancers14020269"}], "notes": [], "created": "2026-09-23T12:50:31.899Z", "modified": "2026-09-23T12:50:32.023Z"}, {"entity": "publication", "iuid": "d95fbed7fef04d0c8071c4e131b9e93e", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/d95fbed7fef04d0c8071c4e131b9e93e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/d95fbed7fef04d0c8071c4e131b9e93e"}}, "title": "Loss of SDHB Induces a Metabolic Switch in the hPheo1 Cell Line toward Enhanced OXPHOS.", "authors": [{"family": "Tabebi", "given": "Mouna", "initials": "M", "orcid": "0000-0002-2873-161X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/afee1b7a1ad84ff38678aa052c5dfa06.json"}}, {"family": "Kumar Dutta", "given": "Ravi", "initials": "R"}, {"family": "Skoglund", "given": "Camilla", "initials": "C"}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}, {"family": "Gimm", "given": "Oliver", "initials": "O", "orcid": "0000-0002-0054-664X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d5c2723383c8418798a829fe6b0158de.json"}}], "type": "journal article", "published": "2022-01-05", "journal": {"title": "Int J Mol Sci", "issn": "1422-0067", "volume": "23", "issue": "1", "issn-l": null}, "abstract": "Enzymes of tricarboxylic acid (TCA) have recently been recognized as tumor suppressors. Mutations in the SDHB subunit of succinate dehydrogenase (SDH) cause pheochromocytomas and paragangliomas (PCCs/PGLs) and predispose patients to malignant disease with poor prognosis.\n\nUsing the human pheochromocytoma cell line (hPheo1), we knocked down SDHB gene expression using CRISPR-cas9 technology.\n\nMicroarray gene expression analysis showed that >500 differentially expressed gene targets, about 54%, were upregulated in response to SDHB knock down. Notably, genes involved in glycolysis, hypoxia, cell proliferation, and cell differentiation were up regulated, whereas genes involved in oxidative phosphorylation (OXPHOS) were downregulated. In vitro studies show that hPheo1 proliferation is not affected negatively and the cells that survive by shifting their metabolism to the use of glutamine as an alternative energy source and promote OXPHOS activity. Knock down of SDHB expression results in a significant increase in GLUD1 expression in hPheo1 cells cultured as monolayer or as 3D culture. Analysis of TCGA data confirms the enhancement of GLUD1 in SDHB mutated/low expressed PCCs/PGLs.\n\nOur data suggest that the downregulation of SDHB in PCCs/PGLs results in increased GLUD1 expression and may represent a potential biomarker and therapeutic target in SDHB mutated tumors and SDHB loss of activity-dependent diseases.", "doi": "10.3390/ijms23010560", "pmid": "35008989", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8745660"}, {"db": "pii", "key": "ijms23010560"}], "notes": [], "created": "2026-09-23T10:12:21.428Z", "modified": "2026-09-23T10:50:42.741Z"}]}