Title:
Development of biomarkers for mitochondrial disorders

 

Shuichi YATSUGA
Department of Pediatrics and Child Health, Kurume University School of Medicine

 

Abstract:
Multiple organ dysfunction occurs in mitochondrial disorders (MDs). MDs are sometimes difficult to diagnose, because patients have solitary and/or combination of various symptoms seizure, myopathy, heart failure and diabetes. 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. To minimanize the number of specimens from such pseudo-mitochondrial patients is very important issue for diagnostic center. In 2011, Serum fibroblast growth factor 21 (FGF21) 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 FGF21. In our study, we investigated whether sFGF21 is useful as a good biomarker for MDs in Japanese. Furthermore, we investigated whether serum growth differentiation factor 15 (GDF15) can be a more specific biomarker for MDs, then GDF15 was the new and useful biomarker for MDs, which is more advantage for diagnostic tool than that in FGF21.

 

 

References:
1. Yatsuga S, Fujita Y, Ishii A, Fukumoto Y, Arahata H, Kakuma T, Kojima T, Ito M, Tanaka M, Saiki R, Koga Y. Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders. Ann Neurol. 2015;78:814-823.

2. Fujita Y, Ito M, Kojima T, Yatsuga S, Koga Y, Tanaka M. GDF15 is a novel biomarker to evaluate efficacy of pyruvate therapy for mitochondrial disorders. Mitochondrion. 2015;20:34-42.