Journal
ANNALS OF NEUROLOGY
Volume 78, Issue 5, Pages 814-823Publisher
WILEY
DOI: 10.1002/ana.24506
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Funding
- Ministry of Education, Culture, Sports, Science and Technology (MEXT) [25461571, 25860891, 25242062]
- Ministry of Health, Labor and Welfare of Japan
- Japan Agency for Medical Research and development, AMED [15ek0109088h0001]
- Grants-in-Aid for Scientific Research [25461571, 25860891, 26670481, 25461100, 25242062] Funding Source: KAKEN
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ObjectiveThe diagnosis of mitochondrial disorders (MDs) is occasionally difficult because patients often present with solitary, or a combination of, symptoms caused by each organ insufficiency, which may be the result of respiratory chain enzyme deficiency. Growth differentiation factor 15 (GDF-15) has been reported to be elevated in serum of patients with MDs. In this study, we investigated whether GDF-15 is a more useful biomarker for MDs than several conventional biomarkers. MethodsWe measured the serum levels of GDF-15 and fibroblast growth factor 21 (FGF-21), as well as other biomarkers, in 48 MD patients and in 146 healthy controls in Japan. GDF-15 and FGF-21 concentrations were measured by enzyme-linked immunosorbant assay and compared with lactate, pyruvate, creatine kinase, and the lactate-to-pyruvate ratio. We calculated sensitivity and specificity and also evaluated the correlation based on two rating scales, including the Newcastle Mitochondrial Disease Rating Scale (NMDAS). ResultsMean GDF-15 concentration was 6-fold higher in MD patients compared to healthy controls (2,711 2,459 pg/ml vs 462.5 +/- 141.0 pg/mL; p < 0.001). Using a receiver operating characteristic curve, the area under the curve was significantly higher for GDF-15 than FGF-21 and other conventional biomarkers. Our date suggest that GDF-15 is the most useful biomarker for MDs of the biomarkers examined, and it is associated with MD severity. InterpretationOur results suggest that measurement of GDF-15 is the most useful first-line test to indicate the patients who have the mitochondrial respiratory chain deficiency. Ann Neurol 2015;78:Ann Neurol 2015;78:679-696
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