Mass spectrometry for metabolomics analysis: Applications in neonatal and cancer screening.
Mass spectrometry for metabolomics analysis: Applications in neonatal and cancer screening.
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DOI：
10.1002/mas.21826
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发表时间：
2022-12
影响因子：
6.6
通讯作者：
Alexander J. Grooms;Benjamin J. Burris;Abraham K. Badu-Tawiah
中科院分区：
文献类型：
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作者：
Alexander J. Grooms;Benjamin J. Burris;Abraham K. Badu-Tawiah
分析仪器的化学分析在疾病诊断中发挥了重要作用，这是疾病治疗的必要步骤。虽然治疗过程通常针对特定的器官或化合物，但诊断步骤可以通过各种手段进行，包括物理或化学检查。在化学上，基因组可以被评估以提供关于潜在遗传结果的信息，转录组提供关于活跃发生的表达的信息，蛋白质组提供关于引起代谢物表达的功能的见解，或者代谢组提供身体中过去和正在进行的生理功能的图片。质谱（MS）在其他分析仪器中得到了提升，因为它可以用来评估身体的所有四种生物机制。此外，MS提供了增强的灵敏度、选择性、多功能性和快速周转时间的速度，这些质量在例如涉及重症监护中的儿科患者或经历手术的癌症患者的诊断的临床程序中是重要的。在这篇综述中，我们提供了一个使用MS评估新生儿筛查和癌症诊断的生物标志物的总结。由于最近出现了许多评论，重点是MS方法和代谢物分析仪器，我们试图描述新生儿筛查中使用的许多代谢组学和其他组学生物标志物的生物学基础，以及与传统方法相比，串联MS方法最近如何应用。对癌症筛查进行了类似的比较，重点是新兴的MS方法，该方法允许分析生物液体、组织和呼吸中诊断代谢物的存在，从而基于对身体先前和当前生理功能的理解来了解治疗方案。
Chemical analysis by analytical instrumentation has played a major role in disease diagnosis, which is a necessary step for disease treatment. While the treatment process often targets specific organs or compounds, the diagnostic step can occur through various means, including physical or chemical examination. Chemically, the genome may be evaluated to give information about potential genetic outcomes, the transcriptome to provide information about expression actively occurring, the proteome to offer insight on functions causing metabolite expression, or the metabolome to provide a picture of both past and ongoing physiological function in the body. Mass spectrometry (MS) has been elevated among other analytical instrumentation because it can be used to evaluate all four biological machineries of the body. In addition, MS provides enhanced sensitivity, selectivity, versatility, and speed for rapid turnaround time, qualities that are important for instance in clinical procedures involving the diagnosis of a pediatric patient in intensive care or a cancer patient undergoing surgery. In this review, we provide a summary of the use of MS to evaluate biomarkers for newborn screening and cancer diagnosis. As many reviews have recently appeared focusing on MS methods and instrumentation for metabolite analysis, we sought to describe the biological basis for many metabolomic and additional omics biomarkers used in newborn screening and how tandem MS methods have recently been applied, in comparison to traditional methods. Similar comparison is done for cancer screening, with emphasis on emerging MS approaches that allow biological fluids, tissues, and breath to be analyzed for the presence of diagnostic metabolites yielding insight for treatment options based on the understanding of prior and current physiological functions of the body.