27 April 2020

Novel IPAH mutations found in Chinese patients, study reports

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A new study reports that newly identified mutations that contribute to a higher susceptibility of idiopathic pulmonary arterial hypertension (IPAH) in people from China, were found in a pathway commonly targeted by therapies that dilate blood vessels (vasodilators). The authors of the article suggested that screening for these mutations may improve personalised treatments for patients.

The study, “Association of Rare PTGIS Variants With Susceptibility and Pulmonary Vascular Response in Patients With Idiopathic Pulmonary Arterial Hypertension,” was published in the journal JAMA Cardiology. Research has identified mutations in at least 17 genes linked to the development of PAH. However, these mutations explain only a small proportion of the cases. For example, mutations in the gene most associated with IPAH, known as BMPR2, are responsible for about 17% of IPAH cases. 

To read the full article, click on the link below. 


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