Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease.

ABSTRACT: Primary mitochondrial disease (PMD) is a large group of genetic disorders directly affecting mitochondrial function. Although next generation sequencing technologies have revolutionized the diagnosis of these disorders, biochemical tests remain essential and functional confirmation of the critical genetic diagnosis. While enzymological testing of the mitochondrial oxidative phosphorylation (OXPHOS) complexes remains the gold standard, oxygraphy could offer several advantages. To this end, we compared the diagnostic performance of both techniques in a cohort of 34 genetically defined PMD patient fibroblast cell lines. We observed that oxygraphy slightly outperformed enzymology for sensitivity (79 ± 17% versus 68 ± 15%, mean and 95% CI), and had a better discriminatory power, identifying 58

SUBMITTER: Bird MJ 

PROVIDER: S-EPMC6835216 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature