Accumulating studies demonstrate that mitochondrial genetics and function are central to determining the susceptibility to, and prognosis of numerous diseases across all organ systems. Despite this recognition, mitochondrial function remains poorly characterized in humans primarily due to the invasiveness of obtaining viable tissue for mitochondrial studies. Recent studies have begun to test the hypothesis that circulating blood cells, which can be obtained by minimally invasive methodology, can be utilized as a biomarker of systemic bioenergetic function in human populations. Here we present the available methodologies for assessing blood cell bioenergetics and review studies that have applied these techniques to healthy and disease populations. We focus on the validation of this methodology in healthy subjects, as well as studies testing whether blood cell bioenergetics are altered in disease, correlate with clinical parameters, and compare with other methodology for assessing human mitochondrial function. Finally, we present the challenges and goals for the development of this emerging approach into a tool for translational research and personalized medicine.

越来越多的研究表明，线粒体遗传学和功能对于确定所有器官系统中多种疾病的易感性和预后至关重要。尽管认识到这一点，但人类的线粒体功能仍然很少被表征，这主要是由于获取活组织用于线粒体研究的侵入性。最近的研究已经开始检验这样的假设：通过微创方法获得的循环血细胞可以用作人类全身生物能量功能的生物标志物。在这里，我们介绍了用于评估血细胞生物能的可用方法，并回顾了将这些技术应用于健康和疾病人群的研究。我们重点关注该方法在健康受试者中的验证，以及测试血细胞生物能量学是否在疾病中发生改变、与临床参数相关的研究，以及与评估人类线粒体功能的其他方法进行比较。最后，我们提出了将这种新兴方法发展成为转化研究和个性化医疗工具的挑战和目标。