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Ultrasound Imaging of the Thoracic and Abdominal Aorta in Mice to Determine Aneurysm Dimensions
Published on: March 8, 2019
Genetics of abdominal aortic aneurysm
Jonathan Golledge1, Helena Kuivaniemi
1The Vascular Biology Unit, Queensland Research Centre for Peripheral Vascular Disease, School of Medicine and Dentistry, James Cook University, Townsville, Australia. Jonathan.Golledge@jcu.edu.au
Current Opinion in Cardiology
|March 13, 2013
Summary
Genetic factors influence abdominal aortic aneurysm (AAA) risk. Recent studies identified specific gene markers (DAB2IP, LRP1) associated with increased AAA risk, aiding in understanding disease development and identifying at-risk individuals.
Area of Science:
- Genetics
- Vascular Biology
- Atherosclerosis Research
Background:
- Family history is a known risk factor for abdominal aortic aneurysm (AAA).
- Genetic factors are implicated in the development, growth, and rupture of AAA.
- Identifying genetic determinants can enhance understanding of AAA pathogenesis and risk stratification.
Purpose of the Study:
- To review current genetic research on abdominal aortic aneurysm.
- To highlight key genetic factors and pathways involved in AAA.
- To discuss the potential of genetic discoveries for clinical management.
Main Methods:
- Genome-wide association studies (GWAS) are employed to identify genetic markers.
- DNA linkage studies are utilized to examine genetic contributions.
- Animal models (e.g., Lrp1-deficient mice) are used to investigate gene function.
Main Results:
- GWAS identified significant AAA risk markers within the DAB2IP and LRP1 genes.
- A 9p21 chromosomal marker, associated with other vascular diseases, also shows strong AAA association.
- Vascular smooth muscle cell-specific Lrp1 deficiency in mice promotes aneurysm development.
- Research is exploring noncoding RNAs, such as microRNAs, in AAA pathogenesis.
Conclusions:
- Genetic studies offer significant potential for uncovering novel AAA pathogenesis mechanisms.
- These findings are highly relevant for improving the clinical management of AAA.
- Further research into genetic factors can lead to better identification of individuals at risk for AAA.
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