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Saturday, 29 July, 2000, 01:56 GMT 02:56 UK
Lung disease gene discovered
Transplant
Heart-lung transplants are the final option for some patients with PPH
British scientists have identified the gene responsible for a devastating lung disease.

Scientists at the University of Leicester say they have pinpointed the gene that can cause primary pulmonary hypertension (PPH).

This disease is a disorder of the blood vessels in the lungs. It causes the arteries to narrow and leads to heart failure.

The causes of the disease are unknown. Few people survive and the only hope for some patients is a heart and lung transplant.

It affects around 100 people in the UK and has higher rates of incidence in women between the ages of 20 and 40 years.


The finding has immediate implications for the families with the disorder

Prof Richard Trembath, University of Leicester

Researchers at Leicester worked with US scientists at Vanderbilt University, Nashville, and The Children's Hospital in Cincinnati.

Their discovery could be used to test people at risk of developing the disease, said Professor Richard Trembath, from the University of Leicester.

He said: "The approach was to search for the location of the gene within the Human Genome and then to use the recently made available Human Genome sequence.

"The finding has immediate implications for the families with the disorder providing a tool for testing at risk family members."

He added: "In the longer term, new drug treatments might emerge through studies looking at the normal and altered function of this gene."

The study was funded by the British Heart Foundation and the Medical Research Council in the UK.

Professor Sir Charles George, medical director at the BHF, described the discovery as "very exciting".

"Now that the researchers have found the gene they can focus on how it works.

"Further research may show whether other genes also play a part and in time may provide the answers that lead to the prevention of this debilitating disease."

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