Potential Interventions Against BMPR2- Related Pulmonary Hypertension

Advances in Pulmonary Hypertension

关键词: Cardiology;    WHO Group 1- Pulmonary Arterial Hypertension;    WHO Group 3- Pulmonary hypertension owing to lung disease;    /or hypoxia;    Pulmonary Function Tests;    symptoms;    Gender;    PH;    Research;    nutrition;    Idiopathic (Primary pulmonary hypertension);    Genetics;    BMPR2;    HHT (hereditary hemorrhagic telangiectasia);    Interstital lung disease (ILD);    pharmacokinetics;    nitric oxide;    Spirometry;    vascular remodeling;    endothelial proliferation;    endothelial dysfunction;    Qualitative research;    patient-reported outcomes;    Drug development;    biomarkers;    Animal Models of PH;    Bleomycin Mouse Model;    Angiogram;    Portopulmonary hypertension;    Classification;   

DOI  :  

学科分类：医学（综合）

来源: Pulmonary Hypertension Association

【 摘 要 】

For more than 60 years, researchers have sought to understand the molecularbasis of idiopathic pulmonary arterial hypertension (PAH). Recognition of theheritable form of the disease led to the creation of patient registries in the1980s and 1990s, and discovery of BMPR2 as the cause of roughly 80% ofheritable PAH in 2000. With discovery of the disease gene came opportunity forintervention, with focus on 2 alternative approaches. First, it may be possibleto correct the effects of BMPR2 mutation directly through interventions targetedat correction of trafficking defects, increasing expression of the unmutatedallele, and correction of splicing defects. Second, therapeutic interventionsare being targeted at the signaling consequences of BMPR2 mutation. Inparticular, therapies targeting cytoskeletal and metabolic defects caused byBMPR2 mutation are currently in trials, or will be ready for human trials in thenear future. Translation of these findings into therapies is the culmination ofdecades of research, and holds great promise for treatment of the underlyingmolecular bases of disease.

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