{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Santella B"],"funding":["PNRR-MUR NextGenerationEU PRIN-PNRR 2022","PNRR-MUR NextGenerationEU PRIN 2022","National Biodiversity Future Center"],"pagination":["265"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12911300"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(1)"],"pubmed_abstract":["<h4>Background</h4>lipedema is a chronic, progressive adipose disorder predominantly affecting women, characterized by painful, symmetrical subcutaneous fat accumulation, and typically resistant to lifestyle interventions. The pathophysiology of advanced-stage lipedema remains poorly defined, and no validated biomarkers or targeted therapies are currently available.<h4>Methods</h4>in this observational study, we applied a comprehensive multi-omics approach to dissect the molecular and metabolic alterations underlying late-stage lipedema.<h4>Results</h4>Genome-wide DNA methylation profiling identified over 5,000 differentially methylated CpG sites affecting genes involved in receptor tyrosine kinase signaling, phospho-metabolism, and immune pathways. Transcriptomic analysis revealed profoun"],"journal":["Journal of translational medicine"],"pubmed_title":["Epigenetic alterations of AKT1 orchestrate a metabolic reprogramming in advanced lipedema: translational insights from an integrated multi-omics study."],"pmcid":["PMC12911300"],"funding_grant_id":["CN00000033","D53D23007790001","D53D23016530001"],"pubmed_authors":["Schiavo L","Salvati A","Nassa G","Memoli D","Marino C","Pulai C","D'Elia M","D'Ursi A","Mingo M","Santella B","Papp A","Rastrelli L"],"additional_accession":[]},"is_claimable":false,"name":"Epigenetic alterations of AKT1 orchestrate a metabolic reprogramming in advanced lipedema: translational insights from an integrated multi-omics study.","description":"<h4>Background</h4>lipedema is a chronic, progressive adipose disorder predominantly affecting women, characterized by painful, symmetrical subcutaneous fat accumulation, and typically resistant to lifestyle interventions. The pathophysiology of advanced-stage lipedema remains poorly defined, and no validated biomarkers or targeted therapies are currently available.<h4>Methods</h4>in this observational study, we applied a comprehensive multi-omics approach to dissect the molecular and metabolic alterations underlying late-stage lipedema.<h4>Results</h4>Genome-wide DNA methylation profiling identified over 5,000 differentially methylated CpG sites affecting genes involved in receptor tyrosine kinase signaling, phospho-metabolism, and immune pathways. Transcriptomic analysis revealed profoun","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Jan","modification":"2026-07-16T04:58:59.865Z","creation":"2026-07-09T13:10:03.058Z"},"accession":"S-EPMC12911300","cross_references":{"pubmed":["41580786"],"doi":["10.1186/s12967-026-07726-w"]}}