Pluripotent Stem Cell Model of Pulmonary Arterial Hypertension

Abstract

Pulmonary arterial hypertension is a debilitating disease that results in obstruction of the pulmonary vessels resulting in right heart failure. Patients diagnosed with Group I heritable pulmonary arterial hypertension (HPAH) have a mean survival rate of 3 years. 70-80% of HPAH patients have a bone morphogenetic receptor 2 (BMPR2) mutation and, in particular, young women are predisposed to this fatal disease. Thus, BMPR2 was identified to be one of the causes of PAH. However, this mutation is only 20% penetrant. Giving rise to several hypotheses such as haploinsufficiency, loss of function, gain of function, dominant negative and environmental insults leading to the progression of disease. C..