The Restoration of Dysferlin through Chemical Chaperones for the L1341P Gene Mutation
The purpose of this study is to determine the ability of Chemical Chaperones to aid in the restoration of Dysferlin – a protein expressed by the DYSF Gene. Genetic mutations within the DYSF gene leads to a dysfunction in Dysferlin resulting in a form of muscular dystrophy categorized as Dysferlinopathy which is a subset of muscular dystrophy. Dysferlin aids in the repair of the Sarcolemma - a thin plasma membrane surrounding muscle fibers. The dysfunction of Dysferlin prevents efficient membrane repair resulting in muscle loss contributing to degenerative muscle wasting overtime. This study will focus on the L1341P Dysferlinopathy gene variance using Dysferlin antibodies. Human Embryonic Kidney cells will be utilized alongside immunocytochemistry techniques to determine if the chemical chaperones, 4PBA and 2-NOAA, will aid in the progression of Dysferlin from the endo-plasmic reticulum to the plasma membrane. ‘Wildtype’ or ‘Non-mutant’ Dysferlin will also be used as a controlled variant to compare observable differences against ‘Mutant’ type cells. Both cell types will be chemically perforated causing injury to the plasma membrane walls allowing the observation of Dysferlin behavior between ‘Wildtype’ and ‘Mutant’ type cells. 2NOAA and 4PBA will be administered into ‘Wildtype and ’Mutant’ type cells in separate drug experiments to help encourage the regeneration of Dysferlin. Dysferlin antibody levels will be quantified using image J Software and Dysferlin restoration will be assessed by flow cytometry.
Research Area | Presenter | Title | Keywords |
---|---|---|---|
Disease Detection, Prevention & Treatment | Gudimella, Srichakrika | muscular dystrophy (0.866667), dysferlinopathy (0.928571), chemical chaperone (0.83871) | |
Disease Detection, Prevention & Treatment | Pelletier, Stephanie | Disease (0.75), Muscular Dystrophy (1.0) | |
Disease Detection, Prevention & Treatment | Mejia, Melanie | Muscular Dystrophy | |
Biological Organisms | Neglawi, Cyan | Muscular dystrophy | |
Genetics | Korsunsky, Aron Reuben | Disease |