ABSTRACT

Introduction

Early biomarker discovery studies have praised the value of their emerging results, predicting an unprecedented impact on health care. Biomarkers are expected to provide tests with increased specificity and sensitivity compared to existing measures, improve the decision-making process, and accelerate the development of therapies. For rare disorders, like Duchenne Muscular Dystrophy (DMD) such biomarkers can assist the development of therapies, therefore also helping to find a cure for the disease.

Area covered

State-of-the-art technologies have been used to identify blood biomarkers for DMD and efforts have been coordinated to develop and promote translation of biomarkers for clinical practice. Biomarker translation to clinical practice is however, adjoined by challenges related to the complexity of the disease, involving numerous biological processes, and the limited sample resources. This review highlights the current progress on the development of biomarkers, describing the proteomics technologies used, the most promising findings and the challenges encountered.

Expert opinion

Strategies for effective use of samples combined with orthogonal proteomics methods for protein quantification are essential for translating biomarkers to the patient’s bed side. Progress is achieved only if strong evidence is provided that the biomarker constitutes a reliable indicator of the patient’s health status for a specific context of use.

中文翻译：

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Duchenne 肌营养不良症：蛋白质生物标志物和临床应用的最新进展。

摘要

简介

早期的生物标志物发现研究称赞了其新兴结果的价值，预测了对医疗保健的前所未有的影响。与现有措施相比，生物标志物有望提供具有更高特异性和敏感性的测试，改进决策过程，并加速疗法的开发。对于杜氏肌营养不良症 (DMD) 等罕见疾病，此类生物标志物可以帮助开发治疗方法，因此也有助于找到治愈该疾病的方法。

覆盖面积

最先进的技术已被用于鉴定 DMD 的血液生物标志物，并已协调努力开发和促进临床实践中生物标志物的转化。然而，将生物标志物转化为临床实践伴随着与疾病复杂性相关的挑战，涉及众多生物过程和有限的样本资源。本综述重点介绍了生物标志物开发的当前进展，描述了所使用的蛋白质组学技术、最有希望的发现和遇到的挑战。

专家意见

有效使用样本的策略结合正交蛋白质组学方法进行蛋白质定量对于将生物标志物转化为患者床边至关重要。只有提供强有力的证据表明生物标志物构成了特定使用环境下患者健康状况的可靠指标，才能取得进展。