Fraidenburg Dustin R, Machado Roberto F
Division of Pulmonary, Critical Care, Sleep and Allergy, Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA.
Division of Pulmonary, Critical Care, Sleep, and Occupational Medicine, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Methods Mol Biol. 2018;1783:259-277. doi: 10.1007/978-1-4939-7834-2_13.
Transcriptome analysis is a powerful tool in the study of pulmonary vascular disease and pulmonary hypertension. Pulmonary hypertension is a disease process that consists of several unique pathologies sharing a common clinical definition, that of elevated pressure within the pulmonary circulation. As such, it has become increasingly important to identify both similarities and differences among the different classes of pulmonary hypertension. Transcriptome analysis has been an invaluable tool both in the basic science research on animal models as well as clinical research among the various different groups of pulmonary hypertension. This work has identified new potential candidate genes, implicated numerous biochemical and molecular pathways in diseased onset and progression, developed gene signatures to appropriately classify types of pulmonary hypertension and severity of illness, and identified novel gene mutations leading to hereditary forms of the disease.
转录组分析是研究肺血管疾病和肺动脉高压的有力工具。肺动脉高压是一种疾病过程,由几种具有共同临床定义的独特病理组成,即肺循环内压力升高。因此,识别不同类型肺动脉高压之间的异同变得越来越重要。转录组分析在动物模型的基础科学研究以及不同组别的肺动脉高压临床研究中都是一种非常有价值的工具。这项工作已经识别出了新的潜在候选基因,揭示了疾病发生和进展中涉及的众多生化和分子途径,开发了基因特征以对肺动脉高压类型和疾病严重程度进行适当分类,并识别出导致该疾病遗传形式的新基因突变。