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Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease
Emil Westerlund1, Sigurður E Marelsson1, Johannes K Ehinger1
1Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden.
Pediatric Research
|October 6, 2017
Summary
Platelet respirometry shows promise as a non-invasive tool for diagnosing mitochondrial disease (MD). While normal results cannot rule out MD, abnormal findings increase diagnostic likelihood, aiding clinical decisions for further testing.
Area of Science:
- Biochemistry
- Pediatric Medicine
- Genetics
Background:
- Diagnosing mitochondrial disease (MD) presents significant challenges.
- Current diagnostic protocols often involve invasive procedures like muscle biopsy.
- Non-invasive methods like blood cell respirometry offer a potential alternative.
Purpose of the Study:
- To investigate the utility of platelet respirometry in diagnosing mitochondrial disease (MD) in pediatric patients.
- To develop and validate a diagnostic model for MD using blood cell respirometry.
Main Methods:
- Blood samples were collected from 113 pediatric patients with a differential diagnosis of MD.
- A respiratory analysis model based on substrate-induced ratios was developed using healthy controls.
- Platelet respirometry's diagnostic accuracy was assessed against established diagnostic investigations.
Main Results:
- Mitochondrial disease (MD) prevalence was 16% in the study cohort.
- A specific ratio demonstrated 96% specificity for MD, with a positive likelihood ratio of 5.3.
- A combined respirometry model achieved 72% sensitivity, though individual ratios had lower sensitivity.
Conclusions:
- Normal platelet respirometry findings do not exclude mitochondrial disease (MD).
- Pathological respirometry results increase the likelihood of MD and support further invasive diagnostic procedures.
- Blood respirometry warrants further investigation as an adjunctive diagnostic tool for MD.
