DNA methylation as clinically useful biomarkers-light at the end of the tunnel.
DNA methylation as clinically useful biomarkers-light at the end of the tunnel.
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DOI：
10.3390/ph5010094
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发表时间：
2012-01-18
期刊：
影响因子：
--
通讯作者：
Melnikov AA
中科院分区：
文献类型：
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作者：
Levenson VV;Melnikov AA
最近我们对表观遗传变化的了解的扩展强烈表明，表观遗传而不是遗传特征更好地反映了疾病的发展，因此，可以成为检测和诊断不同疾病的更具决定性的生物标志物。在本文中，我们将集中在DNA甲基化研究的最新进展，证明异常DNA甲基化和疾病之间的直接联系。这种联系可用于开发诊断生物标志物，以精确识别特定疾病。疾病特异性DNA甲基化模式似乎在对特定药物治疗的反应中发生独特的变化，从而提高了基于DNA甲基化的生物标志物用于监测治疗疗效、预测治疗反应和预后结果的可能性。虽然肿瘤学生物标志物是最明显的应用，但其他医学领域也可能受益。神经和精神疾病的基于DNA甲基化的生物标志物证明了这种潜力。对生物标志物的特殊要求是纵向测试的可能性。在这方面，来自血液的无细胞循环DNA特别有趣，因为它携带特定疾病的甲基化标记。尽管只有少数基于DNA甲基化的生物标志物具有临床相关性，但正在进行的破译疾病特异性甲基化模式的努力可能会在不久的将来产生用于检测，诊断和监测不同疾病的其他生物标志物。
A recent expansion of our knowledge about epigenetic changes strongly suggests that epigenetic rather than genetic features better reflect disease development, and consequently, can become more conclusive biomarkers for the detection and diagnosis of different diseases. In this paper we will concentrate on the current advances in DNA methylation studies that demonstrate a direct link between abnormal DNA methylation and a disease. This link can be used to develop diagnostic biomarkers that will precisely identify a particular disease. It also appears that disease-specific DNA methylation patterns undergo unique changes in response to treatment with a particular drug, thus raising the possibility of DNA methylation-based biomarkers for the monitoring of treatment efficacy, for prediction of response to treatment, and for the prognosis of outcome. While biomarkers for oncology are the most obvious applications, other fields of medicine are likely to benefit as well. This potential is demonstrated by DNA methylation-based biomarkers for neurological and psychiatric diseases. A special requirement for a biomarker is the possibility of longitudinal testing. In this regard cell-free circulating DNA from blood is especially interesting because it carries methylation markers specific for a particular disease. Although only a few DNA methylation-based biomarkers have attained clinical relevance, the ongoing efforts to decipher disease-specific methylation patterns are likely to produce additional biomarkers for detection, diagnosis, and monitoring of different diseases in the near future.