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Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease.

Journal article
Authors Emil Westerlund
Sigurður E Marelsson
Johannes K Ehinger
Fredrik Sjövall
Saori Morota
Eleonor Åsander Frostner
Anders Oldfors
Niklas Darin
Johan Lundgren
Magnus J Hansson
Vineta Fellman
Eskil Elmér
Published in Pediatric research
Volume 83
Pages 455–465
ISSN 1530-0447
Publication year 2018
Published at Institute of Biomedicine, Department of Pathology
Institute of Clinical Sciences, Department of Pediatrics
Pages 455–465
Language en
Subject categories Pediatrics


BackgroundDiagnosing 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.MethodsBlood 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.ResultsMD 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.ConclusionNormal 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.Pediatric Research advance online publication, 15 November 2017; doi:10.1038/pr.2017.250.

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