2022 Volume 54 Issue 6 Pages 401-406
The development of sensitive and specific biomarkers useful for diagnosing mitochondrial diseases has been an urgent issue for mitochondrial disease researchers around the world. We have done the metabolome analysis using cybrid model having an A3243G mutation from MELAS. To enable the measurement of serum GDF15 concentrations at medical institutions, we developed a new latex-enhanced turbidimetric immunoassay (LTIA) as an automated diagnostic indication test for mitochondrial disease. We also examined the equivalency of specificity and sensitivity in measuring serum GDF15 concentrations between a commercially available enzyme-linked immunosorbent assay (ELISA) kit and a novel LTIA device in patients with mitochondrial disease, disease controls, and healthy controls. The diagnostic biomarker GDF15 for mitochondrial disease was discovered and patented. We developed a new diagnostic device that can be mounted on a fully automatic analytical instrument, verified its equivalence with the ELISA system, and then conducted a clinical performance test. As a result, the LTIA system enabled rapid diagnosis of mitochondrial disease with a probability of 94% sensitivity and 91% specificity. The automated, high-throughput technology based on LTIA device has definite advantages over the ELISA kit in shorter processing time and lower estimated cost per sample measurement, which enable to make early diagnosis and treatment of mitochondrial disease. This discovery is a successful example of translational research and will revolutionize the diagnostic algorithms for mitochondrial disease in the world.
