Bird 2016 Abstract IOC115

High-resolution respirometry for the diagnosis of mitochondrial disease

Link: Mitochondr Physiol Network 21.10

Bird M (2016)

Event: IOC115

Using fresh (and frozen?) patient: muscle, liver and fibroblasts, we aim to.

1. Establish reference ranges
2. Validate the technique in biopsies and cultured fibroblasts from patients with a confirmed inherited mitochondrial disorder and patients with non alcoholic liver steatosis AND
3. Prospectively validate the assay in 150 patients suspected of a mitochondrial disorder

In parallel, we will test these samples for mitochondrial function using established protocols to measure ATP production, and respiratory chain enzyme activities, such that we can compare the diagnostic capabilities of these parallel diagnostic tools.

Labels: MiParea: Respiration, Patients 

Stress:Mitochondrial disease  Organism: Human  Tissue;cell: Skeletal muscle, Liver 

HRR: Oxygraph-2k 

Affiliations

UZ Leuven / KU Leuven, Belgium. - [email protected]