Wilkins Martin R, Aman Jurjan, Harbaum Lars, Ulrich Anna, Wharton John, Rhodes Christopher J
Department of Medicine, Imperial College London, London, UK.
F1000Res. 2018 Jul 24;7. doi: 10.12688/f1000research.14984.1. eCollection 2018.
Pulmonary arterial hypertension (PAH) is a rare disorder with a high mortality rate. Treatment options have improved in the last 20 years, but patients still die prematurely of right heart failure. Though rare, it is heterogeneous at the genetic and molecular level, and understanding and exploiting this is key to the development of more effective treatments. , encoding bone morphogenetic receptor type 2, is the most commonly affected gene in both familial and non-familial PAH, but rare mutations have been identified in other genes. Transcriptomic, proteomic, and metabolomic studies looking for endophenotypes are under way. There is no shortage of candidate new drug targets for PAH, but the selection and prioritisation of these are challenges for the research community.
肺动脉高压（PAH）是一种死亡率很高的罕见疾病。在过去20年里，治疗选择有所改善，但患者仍因右心衰竭而过早死亡。尽管罕见，但它在基因和分子水平上具有异质性，理解并利用这一点是开发更有效治疗方法的关键。编码骨形态发生蛋白2型的基因是家族性和非家族性PAH中最常受影响的基因，但在其他基因中也发现了罕见突变。寻找内表型的转录组学、蛋白质组学和代谢组学研究正在进行中。PAH不乏候选新药靶点，但对这些靶点的选择和优先级确定是研究界面临的挑战。
