The past thirty years have seen a surge in interest in pathophysiological roles of mitochondrial, and the accurate quantification of mitochondrial DNA copy number (mCN) in cells and tissue samples is a fundamental aspect of assessing changes in mitochondrial health and biogenesis. Quantification of mCN between studies is surprisingly variable due to a combination of physiological variability and diverse protocols being used to measure this endpoint. The advent of novel methods to quantify nucleic acids like digital polymerase chain reaction (dPCR) and high throughput sequencing offer the ability to measure absolute values of mCN. We conducted an in-depth survey of articles published between 1969 - 2020 to create an overview of mCN values, to assess consensus values of tissue-specific mCN, and to evaluate consistency between methods of assessing mCN. We identify best practices for methods used to assess mCN, and we address the impact of using specific loci on the mitochondrial genome to determine mCN. Current data suggest that clinical measurement of mCN can provide diagnostic and prognostic value in a range of diseases and health conditions, with emphasis on cancer and cardiovascular disease, and the advent of means to measure absolute mCN should future clinical applications of mCN measurements.

在过去的 30 年中，人们对线粒体的病理生理作用产生了浓厚的兴趣，细胞和组织样本中线粒体 DNA 拷贝数 (mCN) 的准确定量是评估线粒体健康和生物发生变化的基本方面。由于生理变异性和用于测量该终点的不同协议的组合，研究之间 mCN 的量化令人惊讶地可变。数字聚合酶链反应 (dPCR) 和高通量测序等核酸定量新方法的出现提供了测量 mCN 绝对值的能力。我们对 1969 年至 2020 年间发表的文章进行了深入调查，以创建 mCN 值的概述，以评估组织特异性 mCN 的共识值，并评估评估 mCN 的方法之间的一致性。我们确定了用于评估 mCN 的方法的最佳实践，并解决了使用线粒体基因组上的特定位点来确定 mCN 的影响。目前的数据表明，mCN 的临床测量可以在一系列疾病和健康状况中提供诊断和预后价值，重点是癌症和心血管疾病，并且测量绝对 mCN 的方法的出现应该是 mCN 测量的未来临床应用。