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dc.contributor.authorLehtonen, Jenni M.
dc.contributor.authorAuranen, Mari
dc.contributor.authorDarin, Niklas
dc.contributor.authorSofou, Kalliopi
dc.contributor.authorBindoff, Laurence
dc.contributor.authorHikmat, Omar
dc.contributor.authorUusimaa, Johanna
dc.contributor.authorVieira, Paivi
dc.contributor.authorTulinius, Már
dc.contributor.authorLönnqvist, Tuula
dc.contributor.authorde Coo, Irenaeus F.
dc.contributor.authorSuomalainen, Anu
dc.contributor.authorIsohanni, Pirjo
dc.date.accessioned2021-04-27T06:50:51Z
dc.date.available2021-04-27T06:50:51Z
dc.date.created2020-10-02T10:00:49Z
dc.date.issued2021
dc.PublishedJournal of Inherited Metabolic Disease. 2020, 1-12.
dc.identifier.issn0141-8955
dc.identifier.urihttps://hdl.handle.net/11250/2739743
dc.descriptionUnder embargo until: 2021-08-28en_US
dc.description.abstractThe aim of this study was to compare the value of serum biomarkers, fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15), with histological analysis of muscle in the diagnosis of mitochondrial disease. We collected 194 serum samples from patients with a suspected or known mitochondrial disease. Biomarkers were analyzed blinded using enzyme‐labeled immunosorbent assay. Clinical data were collected using a structured questionnaire. Only 39% of patients with genetically verified mitochondrial disease had mitochondrial pathology in their muscle histology. In contrast, biomarkers were elevated in 62% of patients with genetically verified mitochondrial disease. Those with both biomarkers elevated had a muscle manifesting disorder and a defect affecting mitochondrial DNA expression. If at least one of the biomarkers was induced and the patient had a myopathic disease, a mitochondrial DNA expression disease was the cause with 94% probability. Among patients with biomarker analysis and muscle biopsy taken <12 months apart, a mitochondrial disorder would have been identified in 70% with analysis of FGF21 and GDF15 compared to 50% of patients whom could have been identified with muscle biopsy alone. Muscle findings were nondiagnostic in 72% (children) and 45% (adults). Induction of FGF21 and GDF15 suggest a mitochondrial etiology as an underlying cause of a muscle manifesting disease. Normal biomarker values do not, however, rule out a mitochondrial disorder, especially if the disease does not manifest in muscle. We suggest that FGF21 and GDF15 together should be first‐line diagnostic investigations in mitochondrial disease complementing muscle biopsy.en_US
dc.language.isoengen_US
dc.publisherWileyen_US
dc.titleDiagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial diseaseen_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.description.versionacceptedVersionen_US
dc.rights.holderCopyright 2020 SSIEMen_US
cristin.ispublishedtrue
cristin.fulltextpostprint
cristin.qualitycode1
dc.identifier.doi10.1002/jimd.12307
dc.identifier.cristin1836478
dc.source.journalJournal of Inherited Metabolic Diseaseen_US
dc.source.pagenumber469-480en_US
dc.identifier.citationJournal of Inherited Metabolic Disease. 2021, 44(2):469-480en_US
dc.source.volume44en_US
dc.source.issue2en_US


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