蛋白质组学和代谢组学的进展揭示了线粒体疾病病理生理学和严重程度的生物标志物。
Proteomic and metabolomic advances uncover biomarkers of mitochondrial disease pathophysiology and severity.
机构信息
Proteomics Core and.
Laboratory of Mitochondrial Biology and Metabolism National Heart, Lung and Blood Institute, NIH, Bethesda, Maryland, USA.
出版信息
J Clin Invest. 2021 Jan 19;131(2). doi: 10.1172/JCI145158.
Abstract
Advancing proteomic and metabolomic technologies that integrate curated omic databases have crossed a threshold to enable their clinical utility. In this issue of the JCI, Sharma et al. exploit emerging technologies to evaluate whether biomarkers identified in the mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome could refine disease characterization, uncover pathways to monitor therapeutic efficacy, and/or delineate disease-modifying targets. The authors analyzed blood and urine samples from patients with this genetic mitochondrial disease and elucidated proteins and metabolites related to NADH-reductive stress. These circulating biomarkers have intriguing clinical potential that implicate disease pathophysiology and may prove important biomarkers for the future management of MELAS.
摘要
推进整合了精心策划的组学数据库的蛋白质组学和代谢组学技术已经跨越了一个门槛，使其能够实现临床应用。在本期 JCI 中，Sharma 等人利用新兴技术评估了线粒体脑肌病伴高乳酸血症和卒中样发作（MELAS）综合征中鉴定的生物标志物是否可以改善疾病特征、揭示监测治疗效果的途径，和/或描绘疾病修饰靶点。作者分析了患有这种遗传性线粒体疾病的患者的血液和尿液样本，并阐明了与 NADH 还原应激相关的蛋白质和代谢物。这些循环生物标志物具有引人注目的临床潜力，涉及疾病病理生理学，并且可能成为 MELAS 未来管理的重要生物标志物。
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