Westerlund 2017 Pediatr Res

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Westerlund E, Marelsson SE, Ehinger JK, Sjövall F, Morota S, Åsander Frostner E, Oldfors A, Darin N, Lundgren J, Hansson MJ, Fellman V, Elmér E (2017) Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease. Pediatr Res 83:455-65.

» PMID: 28981487

Westerlund E, Marelsson SE, Ehinger JK, Sjoevall F, Morota S, Aasander Frostner E, Oldfors A, Darin N, Lundgren J, Hansson MJ, Fellman V, Elmer E (2017) Pediatr Res

Abstract: Diagnosing mitochondrial disease (MD) is a challenge. In addition to genetic analyses, clinical practice is to perform invasive procedures such as muscle biopsy for biochemical and histochemical analyses. Blood cell respirometry is rapid and noninvasive. Our aim was to explore its possible role in diagnosing MD.

Blood samples were collected from 113 pediatric patients, for whom MD was a differential diagnosis. A respiratory analysis model based on ratios (independent of mitochondrial specific content) was derived from a group of healthy controls and tested on the patients. The diagnostic accuracy of platelet respirometry was evaluated against routine diagnostic investigation.

MD prevalence in the cohort was 16%. A ratio based on the respiratory response to adenosine diphosphate in the presence of complex I substrates had 96% specificity for disease and a positive likelihood ratio of 5.3. None of the individual ratios had sensitivity above 50%, but a combined model had 72% sensitivity.

Normal findings of platelet respirometry are not able to rule out MD, but pathological results make the diagnosis more likely and could strengthen the clinical decision to perform further invasive analyses. Our results encourage further study into the role of blood respirometry as an adjunct diagnostic tool for MD.


Bioblast editor: Plangger M


Labels: MiParea: Respiration, Instruments;methods 

Stress:Mitochondrial disease  Organism: Human  Tissue;cell: Platelet  Preparation: Intact cells, Permeabilized cells 


Coupling state: LEAK, ROUTINE, OXPHOS, ET  Pathway: N, S, CIV, NS, ROX  HRR: Oxygraph-2k 

Labels, 2018-10, MitoEAGLEPublication