Difference between revisions of "Bird 2016 Abstract IOC115"
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{{Labeling | {{Labeling | ||
|area=Respiration, Patients | |area=Respiration, Patients | ||
|injuries=Mitochondrial disease | |||
|organism=Human | |organism=Human | ||
|tissues=Skeletal muscle, Liver | |tissues=Skeletal muscle, Liver, Fibroblast | ||
|instruments=Oxygraph-2k | |instruments=Oxygraph-2k | ||
}} | }} | ||
== Affiliations == | == Affiliations == | ||
UZ Leuven / KU Leuven, Belgium. - [email protected] | UZ Leuven / KU Leuven, Belgium. - [email protected] | ||
Revision as of 15:26, 9 November 2016
| 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.
- Establish reference ranges
- Validate the technique in biopsies and cultured fibroblasts from patients with a confirmed inherited mitochondrial disorder and patients with non alcoholic liver steatosis AND
- 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, Fibroblast
HRR: Oxygraph-2k
Affiliations
UZ Leuven / KU Leuven, Belgium. - [email protected]
