Franklin & Marshall College Franklin & Marshall College

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Getting to the Heart of Down Syndrome

Erik Kelly '10

Advisor: Dr. Clara Moore, F&M Department of Biology

The ultimate goal of the research that I have undertaken for the past two years is to better understand the role that triplicated genes play in the disruption of heart formation in patients with Down Syndrome (DS). To pursue these goals, Dr. Moore’s lab utilizes the Ts65Dn mouse model that displays phenotypes comparable to those observed in DS patients, including heart abnormalities. Specifically, much of my research focused on the NFATc signaling pathway, which is crucial for normal heart valve and septa formation. Using antibodies that bind specifically to the NFATc1 protein, I localized NFATc1 to the endocardial cushions, the precursors to valves, at embryonic day 11.5 (E11.5) and found that the protein levels in E12.5 trisomic embryos were increased compared to euploid siblings. My current research uses proteomics, the interface between protein biochemistry and molecular biology, to identify proteins that are differentially expressed in the cardiac tissues of trisomic E14.5 embryos versus euploid siblings. Proteins identified by this bioinformatics technique can be further studied, with the hope of elucidating the mechanisms by which triplicated genes lead to cardiac abnormalities.

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