Biomarkers of mitochondrial disorders.
Level 5 - mechanism / opinion, no new human data
Narrative literature review without systematic search or meta-analysis.
PubMed 38295557 · doi:10.1016/j.neurot.2024.e00325
What was done
Authors conducted a literature review assessing 13 biomarkers for mitochondrial disorders: lactate, pyruvate, lactate:pyruvate ratio, creatine kinase, creatine, amino acid profiles, glutathione, malondialdehyde, GDF-15, FGF-21, gelsolin, neurofilament light-chain, and circulating cell-free mtDNA.
What was found
The abstract reports no numerical metrics, effect sizes, or diagnostic sensitivity/specificity values. Most biomarkers demonstrated mixed findings depending on whether they were evaluated for general mitochondrial conditions or specific disorders. In large comparative studies, GDF-15 followed by FGF-21 demonstrated the greatest clinical value, though neither was found to be perfect.
Why it matters
Clarifying which circulating biomarkers perform best helps clinicians navigate the diagnostic workup for clinically heterogeneous mitochondrial diseases.
Limits
The abstract contains no quantitative diagnostic accuracy data, sample sizes, or study counts. Biomarker utility varies widely by specific mitochondrial disease phenotype, and several reviewed markers lack robust clinical validation.
Cited by
- supports GDF-15 is the best biomarker of mitochondrial disease.