In a study published today in The American Journal of Human Genetics, an international team of medical scientists has for the first time discovered a gene responsible for a fatal abdominal condition that afflicts tens of thousands of people worldwide.

Abdominal aortic aneurysm (AAA) is a swelling of the abdominal aorta to more than 1.5 times its usual size, usually representing an underlying weakness in the aorta’s wall at that location. The biggest concern is the risk of rupture, causing severe pain and massive internal hemorrhage. Without prompt treatment in form of surgery death occurs rapidly. Surgery is performed when the AAA grows above a certain size, as there is minimal risk of the AAA bursting when small. There is no treatment available to prevent small AAAs from growing and despite being able to detect AAAs by screening and surgery; several thousand people still die from burst AAAs every year.

Matt Bown, a vascular surgeon from the University of Leicester who led the international team, discovered a single gene that is associated with the development of abdominal aortic aneurysms (AAAs). The team also identified that the LRP1 gene was not associated with other cardiovascular diseases and therefore suggest that it is specific to AAA.

The study, funded by The Wellcome Trust, was led by The University of Leicester and collaborated with institutions from Australia, New Zealand, Sweden, Denmark, Iceland, The Netherlands, the USA and the UK.

Mr. Bown, senior lecturer in surgery in the Department of Cardiovascular Sciences at the University, explained:

“The study involved over 2,000 people from Leicestershire as well as many more from around the globe. Since AAAs often run in families, the research team compared the genes of people with AAAs to those without and discovered that one gene, LRP1, was associated with AAA.

Abdominal aortic aneurysm 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 in relation to AAA may help us understand more about the disease and how to treat it without resorting to operations.

This is a tremendously exciting discovery that is the culmination of over a decade of research work across 6 countries and is a testament to the research excellence of the people involved. I would also like to extend my thanks to the volunteers who have participated in this research project over the last 10 years – without them this work would not have been possible.”

Written by Petra Rattue