期刊
JOURNAL OF INHERITED METABOLIC DISEASE
卷 44, 期 2, 页码 469-480出版社
WILEY
DOI: 10.1002/jimd.12307
关键词
diagnostics of mitochondrial disease; FGF21; GDF15; mitochondrial disease; muscle biopsy
资金
- Biomedicum Helsinki-saatio
- Doctoral Program in Biomedicine
- Emil Aaltosen Saatio
- Helsingin Yliopiston Tiedesaatio
- Lastentautien Tutkimussaatio
- Maire Taposen Saatio
- Maud Kuistilan Muistosaatio
- Orionin Tutkimussaatio
- Oskar Oflunds Stiftelse
- Sigrid Juseliuksen Saatio
- Stichting NeMo
- Suomen Laaketieteen Saatio
- Terveyden Tutkimuksen Toimikunta
- special governmental subsidy for health sciences research of the Helsinki University Hospital
- Waldemar von Frenckells Foundation
The study demonstrates that in the diagnosis of mitochondrial disease, the value of serum biomarkers FGF21 and GDF15 is higher than traditional muscle histological analysis. Additionally, if both biomarkers are elevated and the patient exhibits muscle manifesting symptoms and is affected by mitochondrial DNA expression, the likelihood of diagnosing mitochondrial disease is higher.
The 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.
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