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Last Updated: Tuesday, 26 July 2005, 22:34 GMT 23:34 UK
Gene link to blood vessel disease
Image of Gerard Houllier
Liverpool manager Gerard Houllier had major heart surgery four years ago
US scientists have found a gene linked to deadly diseases of the body's main blood vessel, the aorta.

The University of Texas team hope their findings, published in Circulation, could lead to new tests and treatments.

Aortic aneurysm and dissection, where the artery weakens and can burst, kill about 6,000 UK people a year.

But if they are spotted and operated on early, lives can be saved - as former football manager Gerard Houllier found out when he was diagnosed in 2001.

Silent killer

Aneurysm - an abnormal bulging - and dissection or splitting of the lining of the aorta occur when an artery's wall breaks down and starts to stretch.

Like a blow-out in a car tyre, this area of weakness can burst, usually causing death because vast volumes of blood are lost.

A simple ultrasound scan can pick up the abnormality, but often the person will not have any warning symptoms until late on.

We are studying how the mutation changes the cell biology of the cells in the aorta
Lead author Dr Dianna Milewicz

If they are detected at an early stage they are usually treatable. If a ruptured aneurysm is treated as an emergency, mortality exceeds 50% in most hospitals.

It is clear that increased risk of the condition runs in families.

Dr Dianna Milewicz and colleagues set out to determine whether there might be an underlying genetic cause.

They looked at 80 families with a history of aneurysm and dissection.

Culprit gene

Four of these families had in common a variant version of a gene called Transforming Growth Factor Beta Receptor Type II.

This gene holds the code for a protein receptor - TGFBR2 - that scientists think is important in regulating synthesis and breakdown of connective tissue - the body's scaffolding.

Dr Milewicz said: "This gives us a molecular pathway to study for the development of therapies and for biological markers of the disease.

"We are studying how the mutation changes the cell biology of the cells in the aorta."

Jeremy Pearson of the British Heart Foundation said the research fits well with what little we already know about the development of aneurysms.

"The fact that this particular mutation was only detected in four of 80 families screened shows us that there are undoubtedly more culprit genes yet to be discovered.

"However, the results are a very valuable step towards understanding better how aneurysms develop and identifying targets for new drugs to halt their progression."

Houllier's scare explained
15 Oct 01 |  Liverpool

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