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Short-term nitisinone discontinuation of hereditary tyrosinemia type 1 mice causes metabolic alterations in glutathione metabolism/biosynthesis and multiple amino acid degradation pathways

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Genes & Diseases 2023年第5期10卷 1759-1762页

作者： Colemonts-Vroninks Haaike Norman P.Brendan Van Laere Sven Davison S.Andrew Marcélis Lionel Casimir Georges Goyens Philippe Claes Paul de bundel dimitri Martens Geert Ranganath Lakshminarayan Rao Vanhaecke Tamara Gallagher James A de Kock Joery Vrije Universiteit Brussel Liver Therapy&Evolution TeamIn Vitro Toxicology and Dermato-Cosmetology(IVTD)Research GroupFaculty of Medicine and PharmacyLaarbeeklaan 103Brussels B-1090Belgium Vrije Universiteit Brussel Experimental Pharmacology(EFAR)Research GroupFaculty of Medicine and PharmacyLaarbeeklaan 103Brussels B-1090Belgium University of Liverpool Dept.of Musculoskeletal&Ageing ScienceInstitute of Life Course&Medical SciencesLiverpool L78TXUnited Kingdom Vrije Universiteit Brussel Interfaculty Center Data Processing and StatisticsFaculty of Medicine and PharmacyLaarbeeklaan 103Brussels B-1090Belgium Liverpool University Hospitals NHS Foundation Trust Clinical Biochemistry and Metabolic MedicineLiverpool L35PSUnited Kingdom UniversitéLibre de Bruxelles Laboratoire de PédiatrieBrussels B-1050Belgium Vrije Universiteit Brussel In Vitro Liver Disease Modelling TeamIn Vitro Toxicology and Dermato-Cosmetology(IVTD)Research GroupFaculty of Medicine and PharmacyLaarbeeklaan 103Brussels B-1090Belgium AZ delta General Hospital Department of Laboratory MedicineRoeselare 8800Belgium Ghent University Department of Biomolecular MedicineGhent 9052Belgium

Hereditary tyrosinemia type 1(HT1)is a life-threatening disease caused by the patient's inability to break down tyrosine due to loss-of-function mutations in the fumarylacetoacetate hydrolase(FAH)enzyme(Fig.S1).Currently,the only available life-saving treatment is nitisinone(NTBC).However,nitisinone therapy comes with debilitating side effects and requires a strict drug regime combined with a tyrosine-and phenylalanine-restricted ***,therapy adherence is often experienced as an additional *** this study,transcriptional profiling was conducted parallel to high-resolution metabolomics on,respectively,liver tissue and serum samples of Fah-deficient *** experimental workflow of our study is shown in Figure *** pathway analyses showed manifest activation of the NRF2-stress response,associated with hepatocellular damage and mainly driven by a markedly increased oxidative *** altered canonical pathways were primarily a downstream consequence of the ***,we observed an overall aminoacidemia and changes related to aminoacyl-tRNA biosynthesis,which postulates that short-term nitisinone discontinuation can already put the patient at risk for hepatocellular carcinoma ***,we did not only identify changes in numerous pathways,directly and indirectly,related to the metabolism of tyrosine and glutathione but also the presence of“side-chain”metabolites,such as y-glutamyl-and N-acetyl-coupled amino acids,indicating that non-directly related pathways like phase II biotransformation reactions are also affected.

关键词： continuation Figure hereditary

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