Genetic defect in sporadic cases of the lung disorder pulmonary hypertension

October 14, 2000

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-ß family (2000; 37:741-5)

Sporadic cases of the lung disorder primary pulmonary hypertension share the same genetic defects as inherited cases of the disease, shows new research in the Journal of Medical Genetics.

Pulmonary hypertension refers to abnormally high blood pressure in the artery serving the lungs. This puts a strain on the heart, which has to work harder to move adequate amounts of blood through the lungs to enable the person to breathe properly. Heart-lung transplants may be the only hope for some patients. It is twice as common in women as it is in men and tends to develop in people in their 20s and 30s.

Around 6 per cent of those diagnosed with the disease have a family history. And recent research has implicated defects in one of the genes (BMPR-II), thought to be involved in cell growth and turnover, in cases of familial primary pulmonary hypertension. The investigating team of the new study looked for these same gene defects among 50 people with primary pulmonary hypertension but no known family history. The team decoded the DNA pattern for BMPR-II from tissue samples taken from the pulmonary arteries of the 50 patients.

They found different BMPR-II defects in 13 of the 50 people studied, each of which would be capable of changing signals among cells that may be vital for their growth. Three of the patients had inherited the defect from their healthy fathers, but in a further two the same defect had arisen spontaneously. The authors suggest that at least one in four patients with the sporadic form of the disease share the same genetic defect as those with the familial form.

These findings have important implications for the relatives of those with the disease, say the authors, and for future treatments which could focus on the altered cell signals arising from the genetic defect.

Professor Richard Trembath, Department of Medicial Genetics, University of Leicester
Tel: +44 (0)116 252 2263/258 5736

Ather Mirza, Press Office, University of Leicester
Tel: +44 (0)116 252 3335/2415/0411 927 821

BMJ Specialty Journals

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