However, questions remain about how the different fibrillins might be organized in normal and diseased tissues and whether one fibrillin is more important than the other for the formation of elastic fibers. The current research is focused on exploring the potential of the CBE cell line to provide valuable information concerning both the organization of the fibrillin proteins within the microfibril and the role of the fibrillin proteins in elastic fiber assembly. Since these cells represent a novel experimental tool for the study of microfibrils, the research may provide new data concerning the pathogenesis of the Marfan syndrome, and ultimately, may provide an important tool for testing potential therapies based on new technological and genetic approaches. The objective of this study is to help provide more definitive criteria for surgical intervention before aortic dissection or rupture by using a biomechanical approach to identify the causes of these events. Both conditions may be understood as mechanical failures of the aortic wall.
Mechanical failure occurs when locally high stresses exceed the strength of the material.
Using a technique called biaxial testing to simultaneously stretch aortic tissue in two directions, the investigators will characterize its stiffness over a range of stretches and measure its strength. This information would assist the surgeon in planning elective surgery. Furthermore, a better understanding of dilation and dissection might also help in developing medical strategies to prevent these conditions. This research involves the investigation of a second gene that might be a cause of the Marfan syndrome. This is important because it will make it possible to determine what proportion of people with the Marfan syndrome have defects in this gene versus the fibrillin-1 gene.