Mass Spectrometry–Based Proteomics in Clinical Diagnosis of Amyloidosis and Multiple Myeloma: A Review (2012–2024)

IF 1.9 3区 化学 Q3 BIOCHEMICAL RESEARCH METHODS
Katerina Kratka, Pavel Sistik, Ivana Olivkova, Pavlina Kusnierova, Zdenek Svagera, David Stejskal
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引用次数: 0

Abstract

Proteomics is nowadays increasingly becoming part of the routine clinical practice of diagnostic laboratories, especially due to the advent of advanced mass spectrometry techniques. This review focuses on the application of proteomic analysis in the identification of pathological conditions in a hospital setting, with a particular focus on the analysis of protein biomarkers. In particular, the main purpose of the review is to highlight the challenges associated with the identification of specific disease-causing proteins, given their complex nature and the variety of posttranslational modifications (PTMs) they can undergo. PTMs, such as phosphorylation and glycosylation, play critical roles in protein function but can also lead to diseases if dysregulated. Proteomics plays an important role especially in various medical fields ranging from cardiology, internal medicine to hemato-oncology emphasizing the interdisciplinary nature of this field. Traditional methods such as electrophoretic or immunochemical methods have been mainstay in protein detection; however, these techniques are limited in terms of specificity and sensitivity. Examples include the diagnosis of multiple myeloma and the detection of its specific protein or amyloidosis, which relies heavily on these conventional methods, which sometimes lead to false positives or inadequate disease monitoring. Mass spectrometry in this respect emerges as a superior alternative, providing high sensitivity and specificity in the detection and quantification of specific protein sequences. This technique is particularly beneficial for monitoring minimal residual disease (MRD) in the diagnosis of multiple myeloma where traditional methods fall short. Furthermore mass spectrometry can provide precise typing of amyloid proteins, which is crucial for the appropriate treatment of amyloidosis. This review summarizes the opportunities for proteomic determination using mass spectrometry between 2012 and 2024, highlighting the transformative potential of mass spectrometry in clinical proteomics and encouraging its wider use in diagnostic laboratories.

基于质谱的蛋白质组学在淀粉样变性和多发性骨髓瘤临床诊断中的应用综述(2012-2024)
蛋白质组学如今日益成为诊断实验室常规临床实践的一部分,特别是由于先进的质谱技术的出现。本文综述了蛋白质组学分析在医院病理条件鉴定中的应用,特别关注蛋白质生物标志物的分析。特别是,回顾的主要目的是强调与特定致病蛋白鉴定相关的挑战,考虑到它们的复杂性和它们可以经历的各种翻译后修饰(PTMs)。PTMs,如磷酸化和糖基化,在蛋白质功能中起关键作用,但如果失调也可能导致疾病。蛋白质组学在从心脏病学、内科到血液肿瘤学等各个医学领域发挥着重要作用,强调了该领域的跨学科性质。电泳或免疫化学等传统方法一直是蛋白质检测的主要方法;然而,这些技术在特异性和敏感性方面是有限的。例如,多发性骨髓瘤的诊断及其特定蛋白质或淀粉样变的检测严重依赖这些传统方法,有时会导致假阳性或疾病监测不足。质谱法在这方面是一个更好的选择,在特定蛋白质序列的检测和定量方面提供了高灵敏度和特异性。这项技术特别有利于监测微小残留病(MRD)在诊断多发性骨髓瘤的传统方法不足。此外,质谱法可以提供淀粉样蛋白的精确分型,这对于淀粉样变性的适当治疗至关重要。本文总结了2012年至2024年间使用质谱法测定蛋白质组学的机会,强调了质谱法在临床蛋白质组学中的变革潜力,并鼓励其在诊断实验室中的广泛应用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Mass Spectrometry
Journal of Mass Spectrometry 化学-光谱学
CiteScore
5.10
自引率
0.00%
发文量
84
审稿时长
1.5 months
期刊介绍: The Journal of Mass Spectrometry publishes papers on a broad range of topics of interest to scientists working in both fundamental and applied areas involving the study of gaseous ions. The aim of JMS is to serve the scientific community with information provided and arranged to help senior investigators to better stay abreast of new discoveries and studies in their own field, to make them aware of events and developments in associated fields, and to provide students and newcomers the basic tools with which to learn fundamental and applied aspects of mass spectrometry.
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