CIBERER, The Biomedical Network Research Centre on Rare Diseases. Valencia, Spain.
Clin Chim Acta. 2012 Oct 9;413(19-20):1576-82. doi: 10.1016/j.cca.2012.05.021. Epub 2012 Jun 1.
Epigenetics comprises the study of chemical modifications in the DNA and histones that regulates the gene expression or cellular phenotype. However, during the last decade this term has evolved after the elucidation of different mechanisms (microRNAs and nuclear organization of the chromosomes) involved in regulating gene expression. Epigenetics and the new designed technologies capable to analyze epigenetic changes (e.g., methylated DNA, miRNAs expression, post-translational modifications on histones among others) have disclosed an appealing scenario that will offer for the biomedical sciences new biomarkers for the study of neurodegenerative diseases, multifactorial complex diseases, rare diseases and cancer. Moreover, new technologies adapted for epigenetic studies will offer promising applications that in the next years will be common technologies in clinical laboratories. In this review we discuss epigenetic modifications used as possible biomarkers in several diseases. We also present the potential of methodologies to purify histones, and high throughput technologies as candidates to be set in clinical laboratories for their high potential analyzing epigenetic processes.
表观遗传学包括对 DNA 和组蛋白的化学修饰的研究，这些修饰调节基因表达或细胞表型。然而，在过去十年中，随着不同机制（microRNAs 和染色体的核组织）的阐明，这个术语在调节基因表达方面已经进化。表观遗传学和新设计的能够分析表观遗传变化的技术（例如，甲基化 DNA、miRNA 表达、组蛋白的翻译后修饰等）揭示了一个引人注目的场景，这将为生物医学科学提供研究神经退行性疾病、多因素复杂疾病、罕见疾病和癌症的新生物标志物。此外，适应表观遗传学研究的新技术将提供有前途的应用，这些应用在未来几年将成为临床实验室的常见技术。在这篇综述中，我们讨论了几种疾病中用作潜在生物标志物的表观遗传修饰。我们还介绍了分离组蛋白的方法学的潜力，以及高通量技术作为候选技术在临床实验室中的应用，因为它们具有分析表观遗传过程的巨大潜力。
