{"entity": "researcher", "timestamp": "2026-05-19T00:27:47.545Z", "family": "R\u00f6nn", "given": "Tina", "initials": "T", "orcid": "0000-0001-7622-800X", "affiliations": ["Department of Clinical Sciences Malm\u00f6, Lund University Diabetes Centre, Scania University Hospital, Malm\u00f6, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/6d24f13a3d6e4538a6584634beabe5d3.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/6d24f13a3d6e4538a6584634beabe5d3"}}, "publications": [{"entity": "publication", "iuid": "cf4eea7dc9114c88a4492dde1a35c646", "links": {"self": {"href": "https://publications.scilifelab.se/publication/cf4eea7dc9114c88a4492dde1a35c646.json"}, "display": {"href": "https://publications.scilifelab.se/publication/cf4eea7dc9114c88a4492dde1a35c646"}}, "title": "Genes with epigenetic alterations in human pancreatic islets impact mitochondrial function, insulin secretion, and type 2 diabetes", "authors": [{"family": "R\u00f6nn", "given": "Tina", "initials": "T", "orcid": "0000-0001-7622-800X", "researcher": {"href": "https://publications.scilifelab.se/researcher/6d24f13a3d6e4538a6584634beabe5d3.json"}}, {"family": "Ofori", "given": "Jones K", "initials": "JK", "orcid": "0000-0001-6484-1544", "researcher": {"href": "https://publications.scilifelab.se/researcher/31b7b1843fd94a99b488eaf653c6385b.json"}}, {"family": "Perfilyev", "given": "Alexander", "initials": "A", "orcid": "0000-0003-1136-8946", "researcher": {"href": "https://publications.scilifelab.se/researcher/4d86c6fc2d684b4dbc93c2c66e4c4b88.json"}}, {"family": "Hamilton", "given": "Alexander", "initials": "A", "orcid": "0000-0001-5203-9220", "researcher": {"href": "https://publications.scilifelab.se/researcher/3f077dfd61a44eddb403c972994cd3e7.json"}}, {"family": "Pircs", "given": "Karolina", "initials": "K", "orcid": "0000-0001-8281-4785", "researcher": {"href": "https://publications.scilifelab.se/researcher/070f9eb7abde403697f7e8ba0f9ac40e.json"}}, {"family": "Eichelmann", "given": "Fabian", "initials": "F", "orcid": "0000-0002-3975-5596", "researcher": {"href": "https://publications.scilifelab.se/researcher/810ca03b2e8c4adf888cf694facbb38a.json"}}, {"family": "Garcia-Calzon", "given": "Sonia", "initials": "S"}, {"family": "Karagiannopoulos", "given": "Alexandros", "initials": "A", "orcid": "0000-0001-8458-1065", "researcher": {"href": "https://publications.scilifelab.se/researcher/f8c0cfd9fd9741729f91d5dd554c199d.json"}}, {"family": "Stenlund", "given": "Hans", "initials": "H", "orcid": "0000-0001-9943-296X", "researcher": {"href": "https://publications.scilifelab.se/researcher/5259d6369f564651ace11d8bff689535.json"}}, {"family": "Wendt", "given": "Anna", "initials": "A"}, {"family": "Volkov", "given": "Petr", "initials": "P"}, {"family": "Schulze", "given": "Matthias B", "initials": "MB"}, {"family": "Mulder", "given": "Hindrik", "initials": "H"}, {"family": "Eliasson", "given": "Lena", "initials": "L", "orcid": "0000-0002-6467-5029", "researcher": {"href": "https://publications.scilifelab.se/researcher/5b6567e3b86e42c8bb5ef008b665f2de.json"}}, {"family": "Ruhrmann", "given": "Sabrina", "initials": "S"}, {"family": "Bacos", "given": "Karl", "initials": "K", "orcid": "0000-0002-2461-9073", "researcher": {"href": "https://publications.scilifelab.se/researcher/527a271d23de48f8937b489c43e9da1b.json"}}, {"family": "Ling", "given": "Charlotte", "initials": "C", "orcid": "0000-0003-0587-7154", "researcher": {"href": "https://publications.scilifelab.se/researcher/dd7c1ea934034c4db99f31a5a9b04691.json"}}], "type": "journal-article", "published": "2023-12-12", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "14", "issue": "1", "pages": "8040", "issn-l": "2041-1723"}, "abstract": "Epigenetic dysregulation may influence disease progression. Here we explore whether epigenetic alterations in human pancreatic islets impact insulin secretion and type 2 diabetes (T2D). In islets, 5,584 DNA methylation sites exhibit alterations in T2D cases versus controls and are associated with HbA1c in individuals not diagnosed with T2D. T2D-associated methylation changes are found in enhancers and regions bound by \u03b2-cell-specific transcription factors and associated with reduced expression of e.g. CABLES1, FOXP1, GABRA2, GLR1A, RHOT1, and TBC1D4. We find RHOT1 (MIRO1) to be a key regulator of insulin secretion in human islets. Rhot1-deficiency in \u03b2-cells leads to reduced insulin secretion, ATP/ADP ratio, mitochondrial mass, Ca2+, and respiration. Regulators of mitochondrial dynamics and metabolites, including L-proline, glycine, GABA, and carnitines, are altered in Rhot1-deficient \u03b2-cells. Islets from diabetic GK rats present Rhot1-deficiency. Finally, RHOT1methylation in blood is associated with future T2D. Together, individuals with T2D exhibit epigenetic alterations linked to mitochondrial dysfunction in pancreatic islets.", "doi": "10.1038/s41467-023-43719-9", "pmid": "38086799", "labels": {"Swedish Metabolomics Centre": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC10716521"}, {"db": "pii", "key": "10.1038/s41467-023-43719-9"}], "notes": [], "created": "2024-01-10T09:59:46.931Z", "modified": "2025-10-17T13:03:13.252Z"}]}