[Press & Publications] British Heart Foundation-Funded Research at the University of Leicester Pinpoints Gene for Primary Pulmonary Hypertension (PPH)



July 2000

No 144

A group effort between The Division of Medical Genetics, University of Leicester, Vanderbilt University, Nashville and The Children’s Hospital, Cincinnati has succeeded in identifying the gene for PPH. The approach was to search for the location of the gene within the human genome and then to use the recently-mapped human genome sequence. The project at the University of Leicester was funded by the British Heart Foundation and the Medical Research Council.

Professor Sir Charles George, Medical Director at the British Heart Foundation said:

“We are delighted to have funded research to identify the gene mutation responsible for this devastating lung disease, and very pleased for the researchers at Leicester, who have made such an exciting discovery. Primary Pulmonary Hypertension affects around 100 people in the UK each year and the disease is often fatal. Heart - lung transplants remain the final option for some patients. 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.”

Professor Richard Trembath of the University of Leicester said:

Primary pulmonary hypertension is a devastating disorder of the blood vessels in the lungs. Although new treatments are becoming available, the prognosis for survival remains poor. Heart lung transplantation remains the final option for selected patients.

The group effort (equal thirds), between Vanderbilt University, Nashville, The Children’s Hospital, Cincinnati and The Division of Medical Genetics at University of Leicester, has succeeded in identifying the gene for PPH.

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.

However, in the longer term ( five to ten years) new drug treatments might emerge through studies looking at the normal and altered function of this gene.

Finally, in more recent studies, it would appear that changes in the same gene cause at least 25% of apparent single cases. These studies represent a major break through in this condition and also identify one of the most important mechanisms, by which blood vessels communicate to the outside.

“We are proud to be a full and significant contributors to this work. It is a great example of patients , to laboratory science and back to the patients.“

CONTACTS: Professor Trembath is out of the country but can be contacted via email rtrembat@hgmp.mrc.ac.uk, telephone 0976 831527 (NB Prof Trembath is in New Zealand, 11 hours ahead).

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