Germain 2019 Int J Med Sci

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Germain N, Dessein AF, Vienne JC, Dobbelaere D, Mention K, Joncquel M, Dekiouk S, Laine W, Kluza J, Marchetti P (2019) First-line screening of OXPHOS deficiencies using microscale oxygraphy in human skin fibroblasts: A preliminary study. Int J Med Sci 16:931-38.

» PMID: 31341406 Open Access

Germain N, Dessein AF, Vienne JC, Dobbelaere D, Mention K, Joncquel M, Dekiouk S, Laine W, Kluza J, Marchetti P (2019) Int J Med Sci

Abstract: The diagnosis of mitochondrial diseases is a real challenge because of the vast clinical and genetic heterogeneity. Classically, the clinical examination and genetic analysis must be completed by several biochemical assays to confirm the diagnosis of mitochondrial disease. Here, we tested the validity of microscale XF technology in measuring oxygen consumption in human skin fibroblasts isolated from 5 pediatric patients with heterogeneous mitochondrial disorders. We first set up the protocol conditions to allow the determination of respiratory parameters including respiration associated with ATP production, proton leak, maximal respiration, and spare respiratory capacity with reproducibility and repeatability. Maximum respiration and spare capacity were the only parameters decreased in patients irrespective of the type of OXPHOS deficiency. These results were confirmed by high-resolution oxygraphy, the reference method to measure cellular respiration. Given the fact that microscale XF technology allows fast, automated and standardized measurements, we propose to use microscale oxygraphy among the first-line methods to screen OXPHOS deficiencies.

Keywords: Mitochondria, Mitochondrial diseases, Oxidative metabolism, Reserve capacity, Respiratory chain complex Bioblast editor: Plangger M O2k-Network Lab: FR Lille Vienne JC, FR Lille Neviere R

Labels: MiParea: Respiration 

Stress:Mitochondrial disease  Organism: Human  Tissue;cell: Fibroblast  Preparation: Intact cells 

Coupling state: LEAK, ET  Pathway: N, ROX  HRR: Oxygraph-2k 

Labels, 2019-08