Medical scientists have for the first time identified a gene
responsible for a fatal abdominal condition that afflicts tens of
thousands of people across the world.
An international team led by Matt Bown, a vascular surgeon from the
University of Leicester, identified a single gene that is linked to the
development of abdominal aortic aneurysms (AAAs).
What is more, the team discovered that the gene, LRP1, was not
linked to other cardiovascular diseases, suggesting that it is specific
to AAA.
An AAA is a swelling of the main blood vessel in the back of the
abdomen which can burst, causing dangerous internal bleeding. The only
treatment to prevent this happening is surgery. This is performed when
the AAA grows over a certain size as the risk of the AAA bursting is low
when it is small. Unfortunately there is no treatment to prevent small
AAAs from growing and despite detecting AAAs by screening, and surgery,
many thousands of people still die from burst AAA each year.
Mr Bown, senior lecturer in surgery in the Department of
Cardiovascular Sciences at the University, said: "The study involved
over 2000 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."
