دورية أكاديمية
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
| العنوان: | Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation. |
|---|---|
| المؤلفون: | Manoli I; Metabolic Medicine Branch, National Human Genome Research Institute., Sysol JR; Metabolic Medicine Branch, National Human Genome Research Institute., Head PE; Metabolic Medicine Branch, National Human Genome Research Institute., Epping MW; Metabolic Medicine Branch, National Human Genome Research Institute., Gavrilova O; Mouse Metabolism Core, National Institute of Diabetes and Digestive and Kidney Diseases., Crocker MK; Section on Growth and Obesity, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and., Sloan JL; Metabolic Medicine Branch, National Human Genome Research Institute., Koutsoukos SA; Metabolic Medicine Branch, National Human Genome Research Institute., Wang C; Metabolic Medicine Branch, National Human Genome Research Institute., Ktena YP; Metabolic Medicine Branch, National Human Genome Research Institute., Mendelson S; Section on Growth and Obesity, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and., Pass AR; Metabolic Medicine Branch, National Human Genome Research Institute., Zerfas PM; Office of Research Services, Division of Veterinary Resources, NIH, Bethesda, Maryland, USA., Hoffmann V; Office of Research Services, Division of Veterinary Resources, NIH, Bethesda, Maryland, USA., Vernon HJ; Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Fletcher LA; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases., Reynolds JC; Radiology and Imaging Sciences Department, Clinical Center., Tsokos MG; Ultrastructural Pathology Section, Center for Cancer Research; and., Stratakis CA; Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Voss SD; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Chen KY; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases., Brown RJ; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases., Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Berry GT; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Chen XS; Laboratory of Molecular Imaging and Nanomedicine, National Institute of Biomedical Imaging and Bioengineering, NIH, Bethesda, Maryland, USA., Yanovski JA; Section on Growth and Obesity, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and., Venditti CP; Metabolic Medicine Branch, National Human Genome Research Institute. |
| المصدر: | JCI insight [JCI Insight] 2024 Feb 22; Vol. 9 (4). Date of Electronic Publication: 2024 Feb 22. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Ann Arbor, Michigan : American Society for Clinical Investigation, [2016]- |
| مواضيع طبية MeSH: | Amino Acid Metabolism, Inborn Errors*/complications , Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/metabolism , Fibroblast Growth Factors* , Lipodystrophy*, Animals ; Humans ; Mice ; Mice, Transgenic |
| مستخلص: | A distinct adipose tissue distribution pattern was observed in patients with methylmalonyl-CoA mutase deficiency, an inborn error of branched-chain amino acid (BCAA) metabolism, characterized by centripetal obesity with proximal upper and lower extremity fat deposition and paucity of visceral fat, that resembles familial multiple lipomatosis syndrome. To explore brown and white fat physiology in methylmalonic acidemia (MMA), body composition, adipokines, and inflammatory markers were assessed in 46 patients with MMA and 99 matched controls. Fibroblast growth factor 21 levels were associated with acyl-CoA accretion, aberrant methylmalonylation in adipose tissue, and an attenuated inflammatory cytokine profile. In parallel, brown and white fat were examined in a liver-specific transgenic MMA mouse model (Mmut-/- TgINS-Alb-Mmut). The MMA mice exhibited abnormal nonshivering thermogenesis with whitened brown fat and had an ineffective transcriptional response to cold stress. Treatment of the MMA mice with bezafibrates led to clinical improvement with beiging of subcutaneous fat depots, which resembled the distribution seen in the patients. These studies defined what we believe to be a novel lipodystrophy phenotype in patients with defects in the terminal steps of BCAA oxidation and demonstrated that beiging of subcutaneous adipose tissue in MMA could readily be induced with small molecules. |
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(PMID: 30256948) |
| معلومات مُعتمدة: | ZIA DK071014 United States ImNIH Intramural NIH HHS; ZIA HD000641 United States ImNIH Intramural NIH HHS; ZIA HG200318 United States ImNIH Intramural NIH HHS |
| فهرسة مساهمة: | Keywords: Amino acid metabolism; Genetics; Mouse models; Obesity; Therapeutics |
| المشرفين على المادة: | 0 (fibroblast growth factor 21) 62031-54-3 (Fibroblast Growth Factors) 0 (FGF21 protein, human) |
| SCR Disease Name: | Methylmalonic acidemia |
| تواريخ الأحداث: | Date Created: 20240125 Date Completed: 20240224 Latest Revision: 20240330 |
| رمز التحديث: | 20240330 |
| مُعرف محوري في PubMed: | PMC10967474 |
| DOI: | 10.1172/jci.insight.174097 |
| PMID: | 38271099 |
| قاعدة البيانات: | MEDLINE |
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