{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Maung JN"],"funding":["NIDDK NIH HHS","National Institutes of Health"],"pubmed_abstract":["Familial partial lipodystrophy 2 (FPLD2) is a rare disease characterized by adipose tissue loss and redistribution, and metabolic dysfunction. FPLD2 is caused by pathogenic variants in the LMNA gene, encoding nuclear lamins A/C, structural proteins that control nuclear function and gene expression. However, the mechanisms driving adipocyte loss in FPLD2 remain poorly defined. In this study, we recruited eight families with developing or established FPLD2 and performed clinical, histological, and transcriptomic analyses of subcutaneous adipose tissue biopsies. Bulk and single-nuclei RNA-sequencing revealed suppression of lipid metabolism and mitochondrial pathways, alongside increased inflammation. These signatures were mirrored in tamoxifen-inducible adipocyte-specific Lmna knockout mice, "],"journal":["The Journal of clinical investigation"],"pagination":["e198387"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12721891"],"repository":["biostudies-literature"],"pubmed_title":["Lamin A/C regulates lipid metabolism and inflammation: insights from models of familial partial lipodystrophy 2."],"pmcid":["PMC12721891"],"funding_grant_id":["R01 DK121759","F32 DK123887","F32 DK122654","R01 DK125513","R01 DK137798","F31 DK135181"],"pubmed_authors":["Desrosiers B","Nishii A","Lumeng CN","Zhang L","Oral EA","Schill RL","Mori H","Nygard M","Chen Y","Lewis KT","Gomes AD","Hoose KS","Gilio D","Uranga RM","Mandrup S","Obua BN","MacDougald OA","de Paula Souza A","Hetrick TA","Cederna P","Maung JN","Besci O","Mendez-Casillas MD","Li Z","Hermsmeyer ID","Adler RE","Hariri H","Foss de Freitas M","Celik Guler M"],"additional_accession":[]},"is_claimable":false,"name":"Lamin A/C regulates lipid metabolism and inflammation: insights from models of familial partial lipodystrophy 2.","description":"Familial partial lipodystrophy 2 (FPLD2) is a rare disease characterized by adipose tissue loss and redistribution, and metabolic dysfunction. FPLD2 is caused by pathogenic variants in the LMNA gene, encoding nuclear lamins A/C, structural proteins that control nuclear function and gene expression. However, the mechanisms driving adipocyte loss in FPLD2 remain poorly defined. In this study, we recruited eight families with developing or established FPLD2 and performed clinical, histological, and transcriptomic analyses of subcutaneous adipose tissue biopsies. Bulk and single-nuclei RNA-sequencing revealed suppression of lipid metabolism and mitochondrial pathways, alongside increased inflammation. These signatures were mirrored in tamoxifen-inducible adipocyte-specific Lmna knockout mice, ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-06-06T04:43:53.637Z","creation":"2026-05-25T03:12:13.33Z"},"accession":"S-EPMC12721891","cross_references":{"pubmed":["41217838"],"doi":["10.1172/JCI198387"]}}