线粒体DNA拷贝数的生物学和翻译属性:实验室视角与临床相关性。

Deepak Parchwani, Ragini Singh, Digisha Patel
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引用次数: 0

摘要

线粒体DNA拷贝数(mtDNAcn)在细胞能量代谢和线粒体健康中起着重要作用。由于线粒体通过氧化磷酸化负责三磷酸腺苷的产生,因此维持适当的mtDNAcn水平对整体细胞功能至关重要。mtDNAcn的改变与多种疾病有关,包括神经退行性疾病、代谢疾病和癌症,使其成为了解疾病发病机制的重要生物标志物。mtDNAcn的准确估计对临床应用至关重要。定量聚合酶链反应和下一代测序是常用的技术,具有明显的优势和局限性。在临床上,mtDNAcn作为早期诊断、疾病进展和治疗反应的有价值的指标。例如,在肿瘤学中,血液样本中mtDNAcn水平升高与肿瘤侵袭性有关,有助于监测治疗效果。在神经退行性疾病中,如阿尔茨海默病和帕金森病,mtDNAcn模式的改变提供了对疾病机制和进展的见解。了解和估计mtDNAcn对于推进各种医学领域的诊断和治疗策略至关重要。随着研究继续揭示mtDNAcn改变的含义,其作为临床生物标志物的潜力可能会扩大,从而提高我们诊断和管理复杂疾病的能力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Biological and translational attributes of mitochondrial DNA copy number: Laboratory perspective to clinical relevance.

The mitochondrial DNA copy number (mtDNAcn) plays a vital role in cellular energy metabolism and mitochondrial health. As mitochondria are responsible for adenosine triphosphate production through oxidative phosphorylation, maintaining an appropriate mtDNAcn level is vital for the overall cellular function. Alterations in mtDNAcn have been linked to various diseases, including neurodegenerative disorders, metabolic conditions, and cancers, making it an important biomarker for understanding the disease pathogenesis. The accurate estimation of mtDNAcn is essential for clinical applications. Quantitative polymerase chain reaction and next-generation sequencing are commonly employed techniques with distinct advantages and limitations. Clinically, mtDNAcn serves as a valuable indicator for early diagnosis, disease progression, and treatment response. For instance, in oncology, elevated mtDNAcn levels in blood samples are associated with tumor aggressiveness and can aid in monitoring treatment efficacy. In neurodegenerative diseases such as Alzheimer's and Parkinson's, altered mtDNAcn patterns provide insights into disease mechanisms and progression. Understanding and estimating mtDNAcn are critical for advancing diagnostic and therapeutic strategies in various medical fields. As research continues to uncover the implications of mtDNAcn alterations, its potential as a clinical biomarker is likely to expand, thereby enhancing our ability to diagnose and manage complex diseases.

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