School of Pharmacy and Biomolecular Sciences, Liverpool John Moores University, Liverpool L3 3AF, UK.
Int J Mol Sci. 2022 Jul 5;23(13):7487. doi: 10.3390/ijms23137487.
Mitochondrial respiratory chain (MRC) disorders are a complex group of diseases whose diagnosis requires a multidisciplinary approach in which the biochemical investigations play an important role. Initial investigations include metabolite analysis in both blood and urine and the measurement of lactate, pyruvate and amino acid levels, as well as urine organic acids. Recently, hormone-like cytokines, such as fibroblast growth factor-21 (FGF-21), have also been used as a means of assessing evidence of MRC dysfunction, although work is still required to confirm their diagnostic utility and reliability. The assessment of evidence of oxidative stress may also be an important parameter to consider in the diagnosis of MRC function in view of its association with mitochondrial dysfunction. At present, due to the lack of reliable biomarkers available for assessing evidence of MRC dysfunction, the spectrophotometric determination of MRC enzyme activities in skeletal muscle or tissue from the disease-presenting organ is considered the 'Gold Standard' biochemical method to provide evidence of MRC dysfunction. The purpose of this review is to outline a number of biochemical methods that may provide diagnostic evidence of MRC dysfunction in patients.
线粒体呼吸链（MRC）疾病是一组复杂的疾病，其诊断需要多学科的方法，其中生化研究起着重要作用。初步的研究包括血液和尿液中的代谢物分析，以及乳酸、丙酮酸和氨基酸水平的测量，以及尿液有机酸的测量。最近，类激素细胞因子，如成纤维细胞生长因子-21（FGF-21），也被用作评估 MRC 功能障碍证据的一种手段，尽管仍需要进一步的工作来证实其诊断效用和可靠性。鉴于其与线粒体功能障碍的关联，氧化应激证据的评估也可能是诊断 MRC 功能的一个重要参数。目前，由于缺乏用于评估 MRC 功能障碍证据的可靠生物标志物，因此，在骨骼肌或疾病表现器官的组织中测定 MRC 酶活性的分光光度法被认为是提供 MRC 功能障碍证据的“金标准”生化方法。本综述的目的是概述一些可能为 MRC 功能障碍患者提供诊断证据的生化方法。
