University Eye Clinic Maastricht, Maastricht University Medical Center+, Maastricht, the Netherlands; Research School of Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands.
University Eye Clinic Maastricht, Maastricht University Medical Center+, Maastricht, the Netherlands; Research School of Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Maastricht University, Maastricht, the Netherlands.
Mitochondrion. 2022 Jan;62:187-204. doi: 10.1016/j.mito.2021.10.008. Epub 2021 Nov 2.
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.
虽然线粒体功能障碍是原发性线粒体疾病的已知原因，但线粒体功能障碍往往难以衡量和证明，尤其是当无法获得受影响组织的活检时。为了确定线粒体功能障碍的血液生物标志物，我们回顾了测量经基因、临床或生化确认的原发性线粒体疾病患者血液生物标志物的研究。通过这种方式，我们确定存在潜在的线粒体功能障碍，可以验证该生物标志物。我们发现了三类生物标志物：1）在血细胞中测量的功能标志物，2）血清/血浆的生化标志物，3）DNA 标志物。虽然审查的单个生物标志物中没有一个可以完美地揭示所有潜在的线粒体功能障碍，但结合涵盖线粒体损伤不同方面的生物标志物可能是一个很好的策略。该生物标志物组合可能有助于原发性线粒体疾病患者的诊断。由于线粒体功能障碍也可能在阿尔茨海默病和青光眼等多因素疾病的病理生理学中发挥重要作用，该组合也可能用于评估复杂多因素疾病中的线粒体功能障碍，并选择可能受益于针对线粒体的治疗的患者。
