Accéder directement au contenu Accéder directement à la navigation
Article dans une revue

First-line Screening of OXPHOS Deficiencies Using Microscale Oxygraphy in Human Skin Fibroblasts: A Preliminary Study

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.
Liste complète des métadonnées

Littérature citée [16 références]  Voir  Masquer  Télécharger

https://hal.univ-lille.fr/hal-02913827
Contributeur : Nicolas Germain <>
Soumis le : lundi 10 août 2020 - 16:10:21
Dernière modification le : mardi 25 août 2020 - 17:22:26

Fichier

10.7150:ijms.32413.pdf
Fichiers éditeurs autorisés sur une archive ouverte

Identifiants

Collections

Citation

Nicolas Germain, Anne-Frédérique Dessein, Jean-Claude Vienne, Dries Dobbelaere, Karine Mention, et al.. First-line Screening of OXPHOS Deficiencies Using Microscale Oxygraphy in Human Skin Fibroblasts: A Preliminary Study. International Journal of Medical Sciences, Ivyspring International Publisher, 2019, 16 (7), pp.931-938. ⟨10.7150/ijms.32413⟩. ⟨hal-02913827⟩

Partager

Métriques

Consultations de la notice

58

Téléchargements de fichiers

47