Blood biomarkers for assessment of mitochondrial dysfunction: An expert review

Research output: Contribution to journalReview articleAcademicpeer-review

Abstract

Although mitochondrial dysfunction is the known cause of primary mitochondrial disease, mitochondrial dysfunction is often difficult to measure and prove, especially when biopsies of affected tissue are not available. In order to identify blood biomarkers of mitochondrial dysfunction, we reviewed studies that measured blood biomarkers in genetically, clinically or biochemically confirmed primary mitochondrial disease patients. In this way, we were certain that there was an underlying mitochondrial dysfunction which could validate the biomarker. We found biomarkers of three classes: 1) functional markers measured in blood cells, 2) biochemical markers of serum/plasma and 3) DNA markers. While none of the reviewed single biomarkers may perfectly reveal all underlying mitochondrial dysfunction, combining biomarkers that cover different aspects of mitochondrial impairment probably is a good strategy. This biomarker panel may assist in the diagnosis of primary mitochondrial disease patients. As mitochondrial dysfunction may also play a significant role in the pathophysiology of multifactorial disorders such as Alzheimer's disease and glaucoma, the panel may serve to assess mitochondrial dysfunction in complex multifactorial diseases as well and enable selection of patients who could benefit from therapies targeting mitochondria.

Original languageEnglish
Pages (from-to)187-204
Number of pages18
JournalMitochondrion
Volume62
DOIs
Publication statusPublished - Jan 2022

Keywords

  • Biomarkers
  • Blood
  • COMPLEX-I
  • DIFFERENTIATION FACTOR 15
  • DNA COPY NUMBER
  • HEREDITARY OPTIC NEUROPATHY
  • LACTIC-ACIDOSIS
  • Mitochondrial disorder
  • Mitochondrial dysfunction
  • Multifactorial diseases
  • NITRIC-OXIDE PRODUCTION
  • OXIDATIVE STRESS
  • PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
  • SERUM GDF15 LEVELS
  • STROKE-LIKE EPISODES
  • RESPIRATORY-CHAIN DISEASE
  • NONALCOHOLIC FATTY LIVER
  • GROWTH-FACTOR 21

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