Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

What is it about?

We previously identified rare genetic mutations in a gene called GDF2 in patients with pulmonary arterial hypertension. We now show that these mutations disrupt the function of the protein product (BMP9) of this gene, leading to reduced levels of BMP9 in the blood of these patients. Testing of a larger patient group shows that some other patients without mutations also have unusually low BMP9 levels. This suggests inadequate BMP9 activity contributes to pulmonary arterial hypertension.

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