Gene Responsible for Heritable Abdominal Aortic Aneurysm Uncovered

The discovery of a single gene – seemingly specific – for development of familial (heritable) abdominal aortic aneurysm (AAA) was announced to the world in November 2011.  And yet I have the impression that for some reason such momentous achievement has not had much of an impact on the vascular community at large. I trust the “silence” will soon end as physicians come to comprehend the enormous significance of this breakthrough. Lead investigator Matt Bown (from the University of Leicester) offered these comments shortly after publication of their important paper:¹

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.
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.

The team determined that the LRP1 (low-density lipoprotein receptor-related protein 1) gene was not associated with other cardiovascular diseases and therefore suggested that it is specific to AAA. The study, funded by The Wellcome Trust, was led by the University of Leicester in collaboration with institutions from Australia, New Zealand, Sweden, Denmark, Iceland, The Netherlands, the United States and the United Kingdom.

The potential of this discovery can only be limited by one’s imagination: from prevention of AAA to medical noninterventional therapies, and many other possibilities in between. The future is not here yet but it shines ever more brightly indeed.

Reference

1.    Bown MJ, Jones GT, Harrison SC, et al. Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. Am J Hum Genet. 2011;89(5):619-627.