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Please use this identifier to cite or link to this item: http://hdl.handle.net/1807/18985

Title: Pharmacological Rescue of Nonsense Mutations in Rett Syndrome
Authors: Popescu, Andreea
Advisor: Eubanks, James
Department: Physiology
Keywords: Rett syndrome
aminoglycosides
MeCP2
Issue Date: 17-Feb-2010
Abstract: Rett syndrome is a neurological condition that affects primarily girls. Approximately 40% of Rett syndrome cases arise from nonsense mutations. Several studies have shown that certain aminoglycosides can suppress some types of nonsense mutations in a context dependent manner, and allow the generation of a full length protein. It remains mostly unclear whether different nonsense mutations of MECP2 will be responsive to aminoglycoside treatment. In this study I tested whether some nonsense mutations of MECP2 seen clinically in Rett syndrome girls can be partially suppressed by aminoglycoside administration. My results show that aminoglycosides allow different mutant forms of MECP2 to be overcome in transiently transfected HEK-293 cells, but with differing levels of efficiency. Furthermore, I also show that aminoglycosides increased the prevalence of full length MeCP2 protein in a lymphocyte cell line derived from a Rett girl with R255X mutation. This study establishes the “proof of principle” that some nonsense mutations causing Rett syndrome can be suppressed by drμg treatment.
URI: http://hdl.handle.net/1807/18985
Appears in Collections:Master
Department of Physiology - Master theses

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