Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/Miguel Servet, 177, 50013 Zaragoza, Spain.
Instituto de Investigación Sanitaria (IIS) de Aragón, Av. San Juan Bosco, 13, 50009 Zaragoza, Spain.
Int J Mol Sci. 2020 May 10;21(9):3374. doi: 10.3390/ijms21093374.
Mitochondrial oxidative phosphorylation disorders are extremely heterogeneous conditions. Their clinical and genetic variability makes the identification of reliable and specific biomarkers very challenging. Until now, only a few studies have focused on the effect of a defective oxidative phosphorylation functioning on the cell's secretome, although it could be a promising approach for the identification and pre-selection of potential circulating biomarkers for mitochondrial diseases. Here, we review the insights obtained from secretome studies with regard to oxidative phosphorylation dysfunction, and the biomarkers that appear, so far, to be promising to identify mitochondrial diseases. We propose two new biomarkers to be taken into account in future diagnostic trials.
线粒体氧化磷酸化障碍是一组极具异质性的疾病。其临床表现和遗传多样性使得可靠且特异的生物标志物的寻找极具挑战。到目前为止,仅有少数研究集中于氧化磷酸化功能障碍对细胞分泌组的影响,尽管这可能是鉴定和初步筛选潜在线粒体疾病循环生物标志物的很有前景的方法。在此,我们对氧化磷酸化障碍相关的分泌组学研究以及迄今为止看来有望用于鉴定线粒体疾病的生物标志物的研究进展进行综述。我们提出了两种新的生物标志物,以供未来的诊断试验考虑。