Monitoring clinical progression with mitochondrial disease biomarkers

Brain. 2017 Oct 1;140(10):2530-2540. doi: 10.1093/brain/awx168.


Mitochondrial disorders are genetically determined metabolic diseases due to a biochemical deficiency of the respiratory chain. Given that multi-system involvement and disease progression are common features of mitochondrial disorders they carry substantial morbidity and mortality. Despite this, no disease-modifying treatments exist with clear clinical benefits, and the current best management of mitochondrial disease is supportive. Several therapeutic strategies for mitochondrial disorders are now at a mature preclinical stage. Some are making the transition into early-phase patient trials, but the lack of validated biomarkers of disease progression presents a challenge when developing new therapies for patients. This update discusses current biomarkers of mitochondrial disease progression including metabolomics, circulating serum markers, exercise physiology, and both structural and functional imaging. We discuss the advantages and disadvantages of each approach, and consider emerging techniques with a potential role in trials of new therapies.

Keywords: biomarkers; disease progression; mitochondrial disease; mitochondrial encephalomyopathy; mtDNA.

Publication types

  • Review

MeSH terms

  • Biomarkers / metabolism*
  • Cytokines / blood
  • Disease Progression
  • Humans
  • Metabolomics
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / metabolism*
  • Neuroimaging


  • Biomarkers
  • Cytokines