Wcn24-865 Measurement of Mitochondrial Respiratory Chain Activity Using Cultured Tubular Cells From Urine as a New Diagnostic Method for Mitochondrial Nephropathy

Mitochondrial disease can be defined as a genetic disease that manifests due to abnormalities in mitochondrial respiratory chain (MRC) caused by pathogenic variants in genes located on mtDNA or nDNA. It has been known that measurement of MRC enzyme activity in cultured fibroblasts from skin biopsies and in affected organ tissues is useful for the diagnosis of mitochondrial diseases. There have been reports of the usefulness of measuring MRC activity in renal tissue in kidney as well. On the other hand, the use of renal tissue is risky as a kidney biopsy must be performed.