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Methodologies in Mitochondrial Testing: Diagnosing a Primary Mitochondrial Respiratory Chain Disorder
Emily L Gill1,2, Jing Wang1, Angela N Viaene1,2
1Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Diagnosing primary mitochondrial disorders (PMD) is challenging due to heterogeneous symptoms. This review details current biochemical, histologic, and genetic testing strategies, highlighting their diagnostic utility and limitations.
Area of Science:
- Cell Biology
- Genetics
- Biochemistry
Background:
- Mitochondria generate cellular energy via oxidative phosphorylation (OxPhos).
- Pathogenic variants in mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) cause OxPhos defects.
- Primary mitochondrial disorders (PMD) present with diverse, multi-system symptoms, complicating clinical diagnosis.
Conclusions:
- Understanding the diagnostic utility of each testing method is crucial.
- Future test development is needed to address current gaps in mitochondrial disease diagnosis.
- A comprehensive approach combining multiple testing strategies improves diagnostic accuracy for PMD.
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