FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.

Biomarkers Child Fibroblast Growth Factors / genetics Growth Differentiation Factor 15 / genetics Humans Mitochondrial Diseases / diagnosis
Biomarker Diagnosis FGF21 GDF15 Mitochondrial disease Pediatric

Journal

Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456

Informations de publication

Date de publication:
01 2022
Historique:
received: 10 08 2021
revised: 30 11 2021
accepted: 01 12 2021
pubmed: 8 1 2022
medline: 5 4 2022
entrez: 7 1 2022
Statut: ppublish

Résumé

Several studies have shown serum fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15) levels are elevated in patients with mitochondrial disease (MD) where myopathy is a feature. In this study we investigated the utility of FGF21 and GDF15 as biomarkers for MD in a phenotypically and genotypically diverse pediatric cohort with suspected MD against a panel of healthy controls and non-mitochondrial disease controls with some overlapping clinical features. Serum was collected from 56 children with MD, 104 children with non-mitochondrial disease (27 neuromuscular, 26 cardiac, 21 hepatic, 30 renal) and 30 pediatric controls. Serum FGF21 and GDF15 concentrations were measured using ELISA, and their ability to detect MD was determined. Median FGF21 and GDF15 serum concentrations were elevated 17-fold and 3-fold respectively in pediatric MD patients compared to the healthy control group. Non-mitochondrial disease controls had elevated serum GDF15 concentrations while FGF21 concentrations were in the normal range. Elevation of GDF15 in a range of non-mitochondrial pediatric disorders limits its use as a MD biomarker. FGF21 was elevated in MD patients with a spectrum of clinical phenotypes, including those without myopathy. Serum FGF21 had an area under the receiver operating characteristic curve of 0.87, indicating good ability to discriminate between pediatric MD and healthy and non-mitochondrial disease controls. Triaging of pediatric MD patients by clinical phenotyping and serum FGF21 testing, followed by massively parallel sequencing, may enable more rapid diagnosis of pediatric MD.

Identifiants

DOI: 10.1016/j.ymgme.2021.12.001 PMID: 34991945
pubmed: 34991945
pii: S1096-7192(21)01174-4
doi: 10.1016/j.ymgme.2021.12.001
pii:
doi:

Substances chimiques

Biomarkers 0
GDF15 protein, human 0
Growth Differentiation Factor 15 0
fibroblast growth factor 21 0
Fibroblast Growth Factors 62031-54-3

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

63-71

Informations de copyright

Copyright © 2021 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest Lisa G Riley, Michael Nafisinia, Minal J. Menezes, Reta Nambiar, Andrew Williams, Elizabeth Barnes, Arthavan Selvanathan, Kate Lichkus, Drago Bratkovic, Joy Yaplito-Lee, Kaustuv Bhattacharya, Maina Kava, Shanti Balasubramaniam, Carolyn Ellaway and John Christodoulou declare they have no competing interests.

Auteurs

Lisa G Riley (LG)

Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Child & Adolescent Health, University of Sydney, Sydney, NSW, Australia; Rare Diseases Functional Genomics, The Children's Hospital at Westmead, Sydney, NSW, Australia. Electronic address: lisa.riley@health.nsw.gov.au.

Michael Nafisinia (M)

Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Child & Adolescent Health, University of Sydney, Sydney, NSW, Australia; Westmead Institute for Medical Research, Storr Liver Centre, Sydney, NSW, Australia.

Minal J Menezes (MJ)

Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Child & Adolescent Health, University of Sydney, Sydney, NSW, Australia.

Reta Nambiar (R)

Immunopathology Laboratory, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Andrew Williams (A)

Immunopathology Laboratory, The Children's Hospital at Westmead, Sydney, NSW, Australia; Central Clinical School, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

Elizabeth H Barnes (EH)

NHMRC Clinical Trials Centre, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.

Arthavan Selvanathan (A)

Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Kate Lichkus (K)

Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Drago Bratkovic (D)

Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

Joy Yaplito-Lee (J)

Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, VIC, Australia.

Kaustuv Bhattacharya (K)

Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

Carolyn Ellaway (C)

Discipline of Child & Adolescent Health, University of Sydney, Sydney, NSW, Australia; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

Maina Kava (M)

Metabolic Unit, Department of Rheumatology and Metabolic Medicine, Princess Margaret Hospital for Children/Perth Children's Hospital, Perth, WA, Australia; Department of Neurology, Princess Margaret Hospital for Children/Perth Children's Hospital, Perth, WA, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.

Shanti Balasubramaniam (S)

Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia; Metabolic Unit, Department of Rheumatology and Metabolic Medicine, Princess Margaret Hospital for Children/Perth Children's Hospital, Perth, WA, Australia.

John Christodoulou (J)

Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Child & Adolescent Health, University of Sydney, Sydney, NSW, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia; Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, VIC, Australia.

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Classifications MeSH

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questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › FGF21 outperforms GDF15 as a diagnostic...
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questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Protéines de la superfamille du TGF bêta › Facteurs de croissance et de différenciation › Facteur-15 de croissance et de différenciation › FGF21 outperforms GDF15 as a diagnostic...
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questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Maladies mitochondriales › FGF21 outperforms GDF15 as a diagnostic...