Title :

First-line screening of oxphos deficiencies using microscale oxygraphy in human skin fibroblasts: a preliminary study

Author(s) :

Germain, Nicolas [Auteur]
Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
Dessein, Anne-Frédérique [Auteur]
Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc) - U1172
Vienne, Jean-Claude [Auteur]
Dobbelaere, Dries [Auteur]
Mulliez, Karine [Auteur]
Joncquel, Marie [Auteur]
Dekiouk, Salim [Auteur]
Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc) - U1172
Laine, William [Auteur]
Kluza, Jerome [Auteur]
Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc) - U1172
Marchetti, Philippe [Auteur]
Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc) - U1172

Journal title :

International journal of medical sciences

Abbreviated title :

Int J Med Sci

Volume number :

16

Pages :

931-938

Publication date :

2019-01-01

ISSN :

1449-1907

Keyword(s) :

mitochondrial diseases
mitochondria
oxidative metabolism
reserve capacity
respiratory chain complex

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

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 ...
Show more >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.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CNRS
Université de Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
• Miniaturisation pour la Synthèse, l'Analyse et la Protéomique (MSAP) - USR 3290

Submission date :

2021-09-02T07:02:06Z