Review: Utility of mass spectrometry in rare disease research and diagnosis.

IF 4.7 2区 医学 Q1 GENETICS & HEREDITY
Teresa Zhao, Daniella H Hock, James Pitt, David R Thorburn, David A Stroud, John Christodoulou
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引用次数: 0

Abstract

Individuals affected by a rare disease often experience a long and arduous diagnostic odyssey. Delivery of genetic answers in a timely manner is critical to affected individuals and their families. Multi-omics, a term which usually encompasses genomics, transcriptomics, proteomics, metabolomics and lipidomics, has gained increasing popularity in rare disease research and diagnosis over the past decade. Mass spectrometry (MS) is a technique allowing the study of proteins, metabolites and lipids and their fragments at scale, enabling researchers to effectively determine the presence and abundance of thousands of molecules in a single test, accurately quantify their specific levels, identify potential therapeutic biomarkers, detect differentially expressed proteins in patients with rare diseases, and monitor disease progression and treatment response. In this review, we focus on mass spectrometry (MS)-based omics and survey the literature describing the utility of different MS-based omics and how they have transformed rare disease research and diagnosis.

综述:质谱法在罕见病研究和诊断中的应用。
患有罕见疾病的人通常要经历漫长而艰难的诊断过程。及时提供基因答案对受影响的个人及其家庭至关重要。多组学,一个通常包括基因组学、转录组学、蛋白质组学、代谢组学和脂质组学的术语,在过去十年中在罕见疾病的研究和诊断中越来越受欢迎。质谱(MS)是一种允许大规模研究蛋白质、代谢物和脂质及其片段的技术,使研究人员能够在一次测试中有效地确定数千种分子的存在和丰度,准确量化它们的特定水平,识别潜在的治疗性生物标志物,检测罕见疾病患者的差异表达蛋白,并监测疾病进展和治疗反应。在这篇综述中,我们将重点关注基于质谱(MS)的组学,并综述了描述不同的基于质谱的组学的应用以及它们如何改变罕见病的研究和诊断的文献。
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
NPJ Genomic Medicine
NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology
CiteScore
9.40
自引率
1.90%
发文量
67
审稿时长
17 weeks
期刊介绍: npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.
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