ESPE Abstracts

Background: Multiple organ dysfunction occurs in mitochondrial diseases (MDs). MDs are sometimes difficult to diagnose, because patients have solitary and/or combination of various symptoms including short stature, diabetes, myopathy, and seizure. Since plasma levels of lactate and pyruvate are not always the perfect biomarker for MDs, there are many pseudo-mitochondrial patients who are suspect for MDs. Diagnosis for MDs often requires muscle biopsy, gene analysis, and measurement of mitochondrial enzyme activity. In 2011, serum fibroblast growth factor 21 (sFGF21) was launched as a biomarker to diagnose muscle-featured MDs. Owing to this, it is now possible to differentiate MDs from similar other diseases using sFGF21.

Objective and hypotheses: We investigated whether sFGF21 is useful as a good biomarker for MDs in Japanese. Furthermore, we investigated whether serum growth differentiation factor 15 (sGDF15) can be a more specific biomarker for MDs.

Method: Blood was extracted from 52 MDs patients and 149 controls. Serum FGF21 (sFGF21) and serum GDF15 was measured using ELISA (Biovendor, Czech and R&D systems, USA). Mann–Whitney U test and ROC analysis were performed using JMP (SAS Institute, Inc., USA)

Results: As previously reported, sFGF21 was higher in MDs (median 661.4 ng/ml (7–8,854 ng/ml)) than in control (median 108.2 pg/ml (7–1645 pg/ml)) (P<0.001). sGDF15 was also significantly higher in MDs (1,807 pg/ml (333.9–5295 pg/ml) than in control (median 370.7 pg/ml (152.5–1,010 pg/ml) (P<0.001). When sFGF21 was over 240.4 pg/ml, sensitivity and specificity were 80.77 and 78.08% for MDs in ROC analysis. Interestingly, when sGDF15 was over 707.2 ng/ml, sensitivity and specificity were 93.48 and 95.21% for MDs in ROC analysis, that was much higher sensitivity and specificity compared with sFGF21.

Conclusion: We investigate that GDF15 is the new and useful biomarker for MDs, which is more advantage for diagnostic tool than that in sFGF21.