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Hutchinson-Gilford Progeria Syndrome Vascular Pathology: A Focused Review, Danielle M. Eschedor
Hutchinson-Gilford Progeria Syndrome Vascular Pathology: A Focused Review, Danielle M. Eschedor
Senior Honors Theses
Hutchinson-Gilford Progeria is an accelerated aging disorder caused by a de novo point mutation in the LMNA gene which codes for an intermediate filament of the nuclear lamina called lamin A. The point mutation at c.1824C>T causes a 50-amino-acid deletion that removes the binding site for Zmpste24, a metalloprotease responsible for defarnesylating prelamin A and producing mature lamin A. Without the ability to be defarnesylated, the mutated protein, called progerin, is more lipophilic and has a myriad of cytotoxic effects. As cardiovascular disease is the most common cause of death in HGPS patients, it is important for both healthcare …