Mitochondrial disorders are genetically determined metabolic diseases due to a biochemical deficiency of the respiratory chain. Given that multi-system involvement and disease progression are common features of mitochondrial disorders they carry substantial morbidity and mortality. Despite this, no disease-modifying treatments exist with clear clinical benefits, and the current best management of mitochondrial disease is supportive. Several therapeutic strategies for mitochondrial disorders are now at a mature preclinical stage. Some are making the transition into early-phase patient trials, but the lack of validated biomarkers of disease progression presents a challenge when developing new therapies for patients. This update discusses current biomarkers of mitochondrial disease progression including metabolomics, circulating serum markers, exercise physiology, and both structural and functional imaging. We discuss the advantages and disadvantages of each approach, and consider emerging techniques with a potential role in trials of new therapies.

中文翻译：

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使用线粒体疾病生物标记物监测临床进展

线粒体疾病是由遗传决定的代谢性疾病，归因于呼吸链的生化缺陷。鉴于多系统参与和疾病进展是线粒体疾病的常见特征，因此它们具有很高的发病率和死亡率。尽管如此，目前尚无具有明显临床益处的疾病缓解疗法，并且目前对线粒体疾病的最佳管理是有帮助的。线粒体疾病的几种治疗策略现在正处于成熟的临床前阶段。一些正在过渡到早期阶段的患者试验，但是在为患者开发新疗法时，缺乏有效的疾病进展生物标志物提出了挑战。本更新讨论了线粒体疾病进展的当前生物标志物，包括代谢组学，循环血清标志物，运动生理学，以及结构和功能成像。我们讨论每种方法的优缺点，并考虑在新疗法的试验中可能发挥作用的新兴技术。