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FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.

التفاصيل البيبلوغرافية
العنوان: FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.
المؤلفون: Manoli I; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Sysol JR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Epping MW; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Li L; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Wang C; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Sloan JL; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Pass A; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Gagné J; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Ktena YP; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Li L; Kidney Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland, USA., Trivedi NS; Genome Technology Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Ouattara B; Sherbrooke Research and Development Centre, Agriculture and Agri-Food Canada, Sherbrooke, Quebec, Canada.; Péléforo Gbon Coulibaly University, Korhogo, Ivory Coast., Zerfas PM; Office of Research Services, NIH, Bethesda, Maryland, USA., Hoffmann V; Office of Research Services, NIH, Bethesda, Maryland, USA., Abu-Asab M; Ultrastructural Pathology Section, Center for Cancer Research, NIH, Bethesda, Maryland, USA., Tsokos MG; Ultrastructural Pathology Section, Center for Cancer Research, NIH, Bethesda, Maryland, USA., Kleiner DE; Laboratory of Pathology, National Cancer Institute, NIH, Bethesda, Maryland, USA., Garone C; Department of Neurology, Columbia University Medical Center, New York, New York, USA., Cusmano-Ozog K; Division of Medical Genetics, Stanford University, Stanford, California, USA., Enns GM; Division of Medical Genetics, Stanford University, Stanford, California, USA., Vernon HJ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Andersson HC; Hayward Genetics Center, Tulane University Medical School, New Orleans, Louisiana, USA., Grunewald S; Department of Pediatric Metabolic Medicine, Great Ormond Street Hospital for Children Foundation Trust, Institute of Child Health, UCL, London, United Kingdom., Elkahloun AG; Genome Technology Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Girard CL; Sherbrooke Research and Development Centre, Agriculture and Agri-Food Canada, Sherbrooke, Quebec, Canada., Schnermann J; Kidney Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland, USA., DiMauro S; Department of Neurology, Columbia University Medical Center, New York, New York, USA., Andres-Mateos E; Grousbeck Gene Therapy Center, Schepens Eye Research Institute and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.; Ocular Genomics Institute, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA., Vandenberghe LH; Grousbeck Gene Therapy Center, Schepens Eye Research Institute and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.; Ocular Genomics Institute, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.; Harvard Stem Cell Institute, Harvard University, Cambridge, Massachusetts, USA.; Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Chandler RJ; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Venditti CP; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
المصدر: JCI insight [JCI Insight] 2018 Dec 06; Vol. 3 (23). Date of Electronic Publication: 2018 Dec 06.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
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: Hormesis* , Stress, Physiological*, Amino Acid Metabolism, Inborn Errors/*metabolism , Fibroblast Growth Factors/*metabolism , Methylmalonyl-CoA Mutase/*metabolism, Amino Acid Metabolism, Inborn Errors/genetics ; Amino Acid Metabolism, Inborn Errors/pathology ; Animals ; Biomarkers/blood ; Disease Models, Animal ; Female ; Fibroblast Growth Factors/blood ; Genetic Therapy ; Humans ; Kidney Diseases/metabolism ; Liver/metabolism ; Liver/pathology ; Liver Transplantation ; Male ; Methylmalonyl-CoA Mutase/genetics ; Mice ; Mice, Knockout ; Mice, Transgenic ; Mitochondria/metabolism ; Mitochondria/pathology ; Phenotype ; Transcriptome
مستخلص: Methylmalonic acidemia (MMA), an organic acidemia characterized by metabolic instability and multiorgan complications, is most frequently caused by mutations in methylmalonyl-CoA mutase (MUT). To define the metabolic adaptations in MMA in acute and chronic settings, we studied a mouse model generated by transgenic expression of Mut in the muscle. Mut-/-;TgINS-MCK-Mut mice accurately replicate the hepatorenal mitochondriopathy and growth failure seen in severely affected patients and were used to characterize the response to fasting. The hepatic transcriptome in MMA mice was characterized by the chronic activation of stress-related pathways and an aberrant fasting response when compared with controls. A key metabolic regulator, Fgf21, emerged as a significantly dysregulated transcript in mice and was subsequently studied in a large patient cohort. The concentration of plasma FGF21 in MMA patients correlated with disease subtype, growth indices, and markers of mitochondrial dysfunction but was not affected by renal disease. Restoration of liver Mut activity, by transgenesis and liver-directed gene therapy in mice or liver transplantation in patients, drastically reduced plasma FGF21 and was associated with improved outcomes. Our studies identify mitocellular hormesis as a hepatic adaptation to metabolic stress in MMA and define FGF21 as a highly predictive disease biomarker.
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معلومات مُعتمدة: K08 HD073492 United States HD NICHD NIH HHS
فهرسة مساهمة: Keywords: Gene therapy; Genetics; Intermediary metabolism; Metabolism; Mitochondria
المشرفين على المادة: 0 (Biomarkers)
0 (fibroblast growth factor 21)
62031-54-3 (Fibroblast Growth Factors)
EC 5.4.99.2 (Methylmalonyl-CoA Mutase)
SCR Disease Name: Methylmalonic acidemia
تواريخ الأحداث: Date Created: 20181207 Date Completed: 20191125 Latest Revision: 20200309
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC6328030
DOI: 10.1172/jci.insight.124351
PMID: 30518688
قاعدة البيانات: MEDLINE
الوصف
تدمد:2379-3708
DOI:10.1172/jci.insight.124351