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Biomarkers of Duchenne muscular dystrophy: current findings

机译：杜氏肌营养不良症的生物标志物：最新发现

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Numerous biomarkers have been unveiled in the rapidly evolving biomarker discovery field, with an aim to improve the clinical management of disorders. In rare diseases, such as Duchenne muscular dystrophy, this endeavor has created a wealth of knowledge that, if effectively exploited, will benefit affected individuals, with respect to health care, therapy, improved quality of life and increased life expectancy. The most promising findings and molecular biomarkers are inspected in this review, with an aim to provide an overview of currently known biomarkers and the technological developments used. Biomarkers as cells, genetic variations, miRNAs, proteins, lipids and/or metabolites indicative of disease severity, progression and treatment response have the potential to improve development and approval of therapies, clinical management of DMD and patients’ life quality. We highlight the complexity of translating research results to clinical use, emphasizing the need for biomarkers, fit for purpose and describe the challenges associated with qualifying biomarkers for clinical applications.
机译：在快速发展的生物标志物发现领域中已经公开了许多生物标志物，目的是改善疾病的临床管理。在诸如杜氏肌营养不良症这样的罕见疾病中，这种努力创造了丰富的知识，这些知识如果得到有效利用，将在医疗保健，治疗，改善的生活质量和预期寿命的提高方面使受影响的个体受益。本综述对最有前途的发现和分子生物标志物进行了检查，目的是概述当前已知的生物标志物和使用的技术发展。指示疾病严重程度，进展和治疗反应的细胞，遗传变异，miRNA，蛋白质，脂质和/或代谢物等生物标志物具有改善疗法的开发和批准，DMD的临床管理以及患者生活质量的潜力。我们强调将研究结果转化为临床用途的复杂性，强调对生物标志物的需求，适合目的并描述与合格的生物标志物用于临床应用相关的挑战。

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