Neurology · 1 h ago
Review examines mitochondrial biomarkers across neurological disorders
A review in *Nature Reviews Neurology* surveys fluid, genetic, multi-omics and imaging biomarkers of mitochondrial dysfunction across primary mitochondrial diseases and other neurological conditions. The authors identify potential uses in diagnosis, patient stratification and monitoring, but say clinical implementation remains limited by variability and low disease specificity.
- Four biomarker domains capture different aspects of mitochondrial dysfunction.
- Potential applications include diagnosis, stratification and disease monitoring.
- Specificity, variability and validation limit clinical implementation.
Mitochondrial dysfunction is implicated in primary mitochondrial diseases and a range of neurological disorders, including amyotrophic lateral sclerosis, Alzheimer disease, Parkinson disease and multiple sclerosis. This review examines how biomarkers of mitochondrial dysfunction might support diagnosis, patient stratification and monitoring of disease progression or treatment response. Primary mitochondrial diseases are presented as proof-of-concept models for biomarker identification and validation.
The authors group biomarkers into four domains: fluid biomarkers of metabolic changes and stress signalling; genetic measures of mitochondrial DNA integrity and dynamics; multi-omics signatures; and imaging of structural and functional effects. Across disorders, these approaches capture disturbances in bioenergetics, redox homeostasis, mitochondrial genome maintenance and inflammatory signalling.
The review says clinical use remains limited by methodological heterogeneity, biological variability and reduced disease specificity. It argues that multimodal biomarker strategies and longitudinal validation will be needed to support precision medicine and development of therapies targeting mitochondrial pathways. The article is a review, not a report of a new clinical study; it does not establish that any biomarker panel is ready for routine clinical use.
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Nature Reviews Neurology: Mitochondrial dysfunction in neurology: biomarkers and clinical implications ↗This is an automated AI-condensed summary that has not yet been reviewed by an editor. Always consult the full item at the original source.
