Louw 2015 Abstract MiPschool Cape Town 2015
|Metabolomics investigation of South African children with respiratory chain deficiencies.|
Louw R (2015)
Event: MiPschool Cape Town 2015
Mitochondrial diseases (MD) are a heterogeneous group of disorders that is characterised by impaired mitochondrial oxidative phosphorylation (OXPHOS) system. Since no metabolic diagnostic biomarkers exist for MD, a deficiency is usually diagnosed after analysing the respiratory chain enzymes (complexes I-IV) in affected tissues or by identifying one of an ever expanding number of DNA mutations. Identifying cases to undergo muscle biopsies for enzyme analyses remains a huge challenge. Targeted and untargeted liquid chromatography mass spectrometry (LC-MS) and gas chromatography mass spectrometry (GC-MS) applications were used to search for a metabolic biosignature that can distinguish respiratory chain deficient (RCD) patients from controls. Sample preparation, LC-MS, GC-MS and data processing methods were standardised. The developed methodology was used to analyse urine samples of patients diagnosed with respiratory chain deficiency (RCD) and controls. After a variety of data mining steps and statistical analyses, numerous metabolic markers were identified that could distinguish between patients with RCDs and controls. Although some of the features still have to be identified and the biosignature validated, the study demonstrates the value of metabolomics to identify a metabolic biosignature to possibly be applied in the diagnostic workflow for RCDs.
Labels: MiParea: Instruments;methods, mt-Medicine, Patients
Stress:Mitochondrial disease Organism: Human
North-Western Univ, South Africa. - [email protected]