肺动脉高压新的致病基因和表观遗传机制研究进展

Novel genetics and epigenetic mechanism of pulmonary arterial hypertension

肺动脉高压(Pulmonary arterial hypertension,PAH)是一类因多种病因导致的严重危害患者健康的渐进性和致死性心血管类疾病。最近研究发现一些新的PAH的遗传因素如KCNK3、Cav1、TopBP1基因突变。此外,表观遗传调控机制DNA甲基化与去甲基化,组蛋白乙酰化与去乙酰化,以及非编码RNA也同时参与PAH。

Pulmonary arterial hypertension(PAH)is a kind of progressive and lethal cardiovascular diseases,some genetic causes such as KCNK3,Cav1,and TopBP1 gene mutation are also involved in the pathogenesis of PAH.Epigenetic regulatory mechanisms,including DNA methylation and demethylation,histone acetylation and deacetylation,and non-coding RNA,also participated in PAH.