Advanced

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

Westerlund, Emil LU ; Marelsson, Sigurður E LU ; Ehinger, Johannes K LU ; Sjövall, Fredrik LU ; Morota, Saori LU ; Åsander Frostner, Eleonor LU ; Oldfors, Anders; Darin, Niklas; Lundgren, Johan LU and Hansson, Magnus J LU , et al. (2017) In Pediatric Research 83. p.455-465
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.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... (More)
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.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. (Less)
Please use this url to cite or link to this publication:
author
, et al. (More)
(Less)
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Pediatrics, Mitochondrial disorder, Mitochondrial Medicine, Platelets, Complex I, Oxygen Consumption, Diagnostic method
in
Pediatric Research
volume
83
pages
455 - 465
publisher
International Pediatric Foundation Inc.
external identifiers
  • scopus:85044362320
ISSN
1530-0447
DOI
10.1038/pr.2017.250
language
English
LU publication?
yes
id
cd98ca58-c7bd-44dd-9315-1a1fc7b54675
date added to LUP
2018-01-23 09:28:15
date last changed
2019-02-20 11:05:27
@article{cd98ca58-c7bd-44dd-9315-1a1fc7b54675,
  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.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.},
  author       = {Westerlund, Emil and Marelsson, Sigurður E and Ehinger, Johannes K and Sjövall, Fredrik and Morota, Saori and Åsander Frostner, Eleonor and Oldfors, Anders and Darin, Niklas and Lundgren, Johan and Hansson, Magnus J and Fellman, Vineta and Elmér, Eskil},
  issn         = {1530-0447},
  keyword      = {Pediatrics,Mitochondrial disorder,Mitochondrial Medicine,Platelets,Complex I,Oxygen Consumption,Diagnostic method},
  language     = {eng},
  month        = {11},
  pages        = {455--465},
  publisher    = {International Pediatric Foundation Inc.},
  series       = {Pediatric Research},
  title        = {Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease},
  url          = {http://dx.doi.org/10.1038/pr.2017.250},
  volume       = {83},
  year         = {2017},
}