Fatal aneurysm gene identified

  • Deborah Condon

A gene which is responsible for a fatal condition affecting the abdomen has been identified by scientists.

Abdominal aortic aneurysms (AAAs) affect tens of thousands of people worldwide every year and they often run in families. They occur when the main blood vessel located in the back of the abdomen swells up. This can eventually burst leading to internal bleeding. Surgery is the only treatment available to stop this from happening.

Surgery is performed when the AAA reaches a certain size, as small AAAs are unlikely to burst. However, there is nothing currently available to stop a small AAA from becoming bigger and thousands of people die every year from the condition.

However, an international team of scientists has now identified a single gene - LRP1 - which is linked to the development of this type of aneurysm. The team also found that this gene is not related to any other heart-related diseases. This indicates that it is AAA-specific.

The study involved over 2,000 people from around the world. The researchers compared the genes of people with AAAs to people without them and found that LRP1 was linked to the condition.

"AAA is an important disease since it commonly affects the older population and can only be treated by surgery. Through this research we have identified a gene that is associated with AAA and the further investigation of the function of this gene may help us understand more about the disease and how to treat it without resorting to operations," explained lead researcher, Mr Matt Brown, of the University of Leicester in the UK.

He described the identification of the gene as ‘tremendously exciting', adding that it involved over 10 years of research in a number of countries worldwide, including the US, Australia and Denmark.

Details of these findings are published in The American Journal of Human Genetics.


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