MedicalNewsToday: Abdominal Aortic Aneurysm Gene Discovered
Date: 23.2.2012
In a study published 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...
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