Gil Hospital professor releases pulmonary hypertension gene's traits - Korea Biomedical Review

Gil Hospital professor releases pulmonary hypertension gene's traits - Korea Biomedical Review

Gil Hospital professor releases pulmonary hypertension gene's traits - Korea Biomedical Review

Posted: 01 Dec 2020 12:00 AM PST

Patients with pulmonary hypertension (PH) accompanied by BMPR-2 gene mutation tend to experience more severe and fast-progressing symptoms and receive treatments at an earlier age, a local researcher said Tuesday.

PH is a fatal disease that causes blood circulation to deteriorate from increased blood pressure in the pulmonary artery, which supplies blood from the heart to the lungs. PH patients eventually die due to right heart failure or sudden cardiac death.

Professor Jung Wook-jin of the Department of Cardiology at Gachon University Gil Hospital and his team have found that pulmonary hypertension (PH) patients with BMPR-2 gene mutation experience more severe symptoms at an earlier age. (Gil Hospital)
Professor Jung Wook-jin of the Department of Cardiology at Gachon University Gil Hospital and his team have found that pulmonary hypertension (PH) patients with BMPR-2 gene mutation experience more severe symptoms at an earlier age. (Gil Hospital)

Professor Jung Wook-jin of Gachon University Gil Hospital's Department of Cardiology observed 73 patients and six families (33 people) at 11 hospitals across the country for a decade. 

By observing genetic and clinical patterns of BMPR-2, Professor Jung found that 22 percent of patients with idiopathic HP in Korea have mutations in BMPR-2 genes.

With this mutation, the age at which treatment begins gets faster, from the 40s to 20s. The average pulmonary artery pressure is also found to be high.

As family members are likelier to develop genes, frequent echocardiography screening is required, he said.

"We have finished the PILGRIM project, making the first step toward customized precision treatment for Korean patients, thanks to the cooperation from patients and researchers at the team," Professor Jung said. "We hope the data accumulated in the long-term will provide new turning points for Korean PH patients and ultimately find special targets for Koreans and Asian patients," he added.   

The project, "The Effect of BMPR2 Gene Mutations on Hemodynamic Response by Iloprost Inhalation in Pulmonary Arterial Hypertension (PILGRIM)," is the first gene study covering characteristics of pulmonary hypertension patients in Korea, according to the hospital. 

The research was published in the September issue of PLOS One. 

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