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Marfan syndrome is an inherited autosomal dominant disorder caused by a mutation in the Fibrillin-1 gene (FBN1) affecting elastic connective tissue. Marfan syndrome commonly presents with ectopia lentis, aortic dissections, mitral valve prolape, and chronic obstructive pulmonary disease (COPD) in later stages. Patients with Marfan Syndrome are shown to have higher concentrations of reactive oxygen species (ROS) in blood plasma. Increased ROS due to oxidative stress can lead to increased cell damage and death, and have been linked to the formation of aortic dissections5. Superoxide dismutases (SOD) are a class of enzymes that convert harmful oxygen radicals into molecular oxygen and hydrogen peroxide2. Manganese-containing SOD (MnSOD) regulates radical oxygen located in the Mitochondria4. The aim of this study is to explore the role of SOD expression and ROS in relation to COPD found in Marfan syndrome. It is hypothesized that the defect in Fibrillin-1 causes oxidative stress in the lung tissue, which often causes COPD, and it is expected that there would be less SOD activity in tissues from mice with Marfan syndrome. The activity of SOD1 and MnSOD in relation to the oxidative stress that is caused by the deficiency of Fibrillin protein will be determined. To accomplish this, a murine model of Marfan syndrome Fbn1mgR/mgR, mice with a hypomorphic mutation in the Fibrillin-1 gene were compared with homozygous wild type mice. Mice were sacrificed after 1, 4 , and 8 week intervals, and both SOD1 and MnSOD expression was quantified in lung tissue. Results of the study found that there was a significant decrease in SOD1 expression in Marfan mice at the one and four week intervals, but no significant difference in the eight week interval. MnSOD was observed to not have any significant difference in expression in the one and four week Marfan mice, but was expressed at a significantly higher level in the 8 week Marfan mice compared to wild-type controls.
Tiojanco, Matthew J.; Eksi, Andrew; Jespersen, Kathryn; Meisinger, Trevor; Baxter, B. Timothy; and Xiong, Wanfen, "Analyzing SOD Activity in Lung Tissue of a Murine Model of Marfan Syndrome" (2021). Posters: 2021 Summer Undergraduate Research Program. 24.