Gene discovered as cause of fatal condition

November 3, 2011

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 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.

The research, funded by The Wellcome Trust, is published today in The . The University of Leicester led the study which also involved institutions from New Zealand, Australia, Denmark, Iceland, The Netherlands, Sweden, the USA and the UK.

An AAA is a swelling of the main blood vessel in the back of the 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 of people with AAAs to those without and discovered that one gene, LRP1, was associated with 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 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 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."

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not rated yet Nov 06, 2011
Ironman training saved my life with respect to dyslipidemia and more recently my self-diagnosed 6.9 cm AAA, which was about to pop - worked it out about 10 days after my best Ironman race yet at the age of 67. I sure would like to talk to the authors, or maybe they'll look at my blog Interestingly, I also have a severe form of hyperlipidemia (resting triglycerides >2000 and HDL < 20 if I don't train), also self-diagnosed. And when I mean training I mean training. Statin (yep, that nasty muscle toxin) had a transient effect, and the MDs wanted to up the dose, and then I saw what it does to rat striated muscle (looked like a horse with Monday Morning Disease - I'm a veterinary pathologist by training). The link of LRP1 to AAA and my having a severe form of dyslipidemia is just too good to ignore. I hope the right people can work their way through the networks (spent 13 yrs doing that stuff). Great Research, Thanks a million to this team.
-k @FitOldDog

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