According to a story from news-medical.net, medical researchers have discovered that the gene called ari-1 can increase the risk aortic aneurysms. Previously, the precise genetic risk factors were not understood, but this study has highlighted the manner in which genetic conditions can make them more likely to occur.
An aortic aneurysm is characterized by an enlargement of the aorta to over 1.5 times its normal size. The aorta is the largest artery in the body, which is responsible for transporting oxygen-rich blood to the rest of the body. While there may occasionally be leg, back, or abdominal pain, the often do not cause symptoms. This disease can increase the risk of aortic rupture because it causes the walls of the aorta to weaken. Aortic rupture is a medical emergency that causes massive internal bleeding and is often fatal even with intervention. To learn more about aortic aneurysms, click here.
The study initially investigated the relationship between ari-1 and parkin, the gene that has been linked to Parkinson’s disease. By studying fruit flies, researchers determined that mutations of the ari-1 gene could produce abnormalities in the cellular structure of muscle. In healthy muscle, the cell nuclei are arranged in such a manner that the cells are able to detect changes in muscle tension. A complex network of protein bridges are responsible for keeping the nuclei in position. The mutated flies had nuclei that tended to cluster together. These changes made the researchers certain that mutations could have a connection to human disease.
The researchers began to investigate the genetic makeup of aortic aneurysm patients, especially focusing on patients that experience the disease earlier in their lives. In these patients, the analysis revealed that many of them had rare mutations that occurred at the ari-1 gene. This suggests that the inability of the mutated cells to detect mechanical changes could significantly increase the risk of someone developing an aortic aneurysm, and that the ability of healthy cells to detect these changes is important for preventing them.
Hopefully, this new data will lead to new approaches for treating and detecting aortic aneurysms.
