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Abstract #98302 Published in IGR 22-4
Blood biomarkers for assessment of mitochondrial dysfunction: An expert review
Hubens WHG; Vallbona-Garcia A; de Coo IFM; van Tienen FHJ; Webers CAB; Smeets HJM; Gorgels TGMF; Gorgels TGMFMitochondrion 2022; 62: 187-204
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.
University Eye Clinic Maastricht, Maastricht University Medical Center+, Maastricht, the Netherlands; Research School of Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands.
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