Marfan Syndrome Case Study

Marfan syndrome is an inherited, autosomal dominant disease that affects the Fibrillin-1 gene. The research will investigate the efficiency of the beta-blocker therapy, a common treatment for cardiac complications. The scientists will also explore the cause of Marfan syndrome, and provide evidence on the theory of TGF-ß causing particular Marfan syndrome symptoms. In brief, with funding, an experiment on patients, ages 5-20, will be asked to receive either the beta-blocker therapy or the experimental enalapril treatment. The beta-blocker and enalapril treatments will be given in the same doses and for 6 months. Because beta-blocker therapy is commonly used to treat cardiovascular complications, a variety of aortic structure and functionalities will be studied. We will be measuring aortic distensibility, aortic growth, stiffness index, and other aortic functionality factors. These characteristics will be compared amongst patients to provide data on the most efficient treatment. The results of this experiment will …show more content…
The genetic mutation for Marfan syndrome is on the Fibrillin-1 gene, but certain symptoms are not explained by this mutation. According to Grover et al., (2012) research, evidence shows that the skeletal variations are linked to faulty transforming growth factors (TGF-ß) signaling properties. The experiment on TGF-ß will be conducted through a mouse model. A mouse—with Marfan syndrome—will receive beta-blocker therapy or the TGF- ß regulation treatment. The TGF- ß signaling will be regulated in this experiment. The mice will be compared to each other along with a control group to determine the success of the study. The bone growth, density, mass, structure etc. will be recorded. TGF- ß could be affected by the mutation in Fibrillin-1 gene or it could be a separate mutation found in Marfan syndrome patients; these hypotheses will be taken into consideration after reviewing the